loprovALFRED[SB] - SNP

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Select item 2531.

rs253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:19953906 (GRCh38)
8:19811417 (GRCh37)
Canonical SPDI:: NC_000008.11:19953905:C:G,NC_000008.11:19953905:C:T
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.464268/97499 (ALFA)
T=0.285654/4788 (TOMMO)
T=0.314956/577 (Korea1K)
T=0.321843/943 (KOREAN)
T=0.341121/73 (Vietnamese)
C=0.348315/124 (SGDP_PRJ)
C=0.357143/10 (Siberian)
T=0.375/15 (GENOME_DK)
T=0.402556/252 (Chileans)
T=0.405644/460 (Daghestan)
C=0.411765/28 (PRJEB36033)
T=0.421296/91 (Qatari)
T=0.423848/423 (GoNL)
T=0.441667/265 (NorthernSweden)
T=0.445511/1717 (ALSPAC)
T=0.449136/936 (HGDP_Stanford)
T=0.455232/1688 (TWINSUK)
C=0.467565/65461 (GnomAD)
C=0.472428/891 (HapMap)
C=0.473724/125390 (TOPMED)
C=0.480793/2408 (1000Genomes)
T=0.497991/2231 (Estonian)
HGVS:: NC_000008.11:g.19953906C>G, NC_000008.11:g.19953906C>T, NC_000008.10:g.19811417C>G, NC_000008.10:g.19811417C>T, NG_008855.2:g.57190C>G, NG_008855.2:g.57190C>T

PubMed LitVar

Select item 2642.

rs264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:19955669 (GRCh38)
8:19813180 (GRCh37)
Canonical SPDI:: NC_000008.11:19955668:G:A
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.148202/34273 (ALFA)
A=0.121667/73 (NorthernSweden)
A=0.125/27 (Qatari)
A=0.129464/580 (Estonian)
A=0.139006/263 (HapMap)
A=0.139555/19529 (GnomAD)
A=0.142176/11189 (PAGE_STUDY)
A=0.143103/37878 (TOPMED)
A=0.144822/537 (TWINSUK)
A=0.145044/559 (ALSPAC)
A=0.147748/164 (Daghestan)
A=0.148297/148 (GoNL)
A=0.15/6 (GENOME_DK)
A=0.163335/818 (1000Genomes)
A=0.166027/346 (HGDP_Stanford)
A=0.180556/39 (Vietnamese)
A=0.186076/147 (PRJEB37584)
A=0.192686/353 (Korea1K)
A=0.206143/604 (KOREAN)
A=0.212754/3566 (TOMMO)
A=0.238095/10 (PRJEB36033)
G=0.409091/63 (SGDP_PRJ)
G=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19955669G>A, NC_000008.10:g.19813180G>A, NG_008855.2:g.58953G>A

PubMed LitVar

Select item 2663.

rs266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19955788 (GRCh38)
8:19813299 (GRCh37)
Canonical SPDI:: NC_000008.11:19955787:A:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.034894/653 (ALFA)
G=0./0 (PRJEB36033)
G=0.000539/2 (TWINSUK)
G=0.000778/3 (ALSPAC)
G=0.001873/1 (MGP)
G=0.003195/2 (Chileans)
G=0.003247/2 (Vietnamese)
G=0.003645/61 (TOMMO)
G=0.034069/71 (HGDP_Stanford)
G=0.037037/8 (Qatari)
G=0.039715/5559 (GnomAD)
G=0.042374/11216 (TOPMED)
G=0.054341/272 (1000Genomes)
G=0.130952/154 (HapMap)
A=0.413043/19 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19955788A>G, NC_000008.10:g.19813299A>G, NG_008855.2:g.59072A>G

Select item 2684.

rs268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19956018 (GRCh38)
8:19813529 (GRCh37)
Canonical SPDI:: NC_000008.11:19956017:A:G
Gene:: LPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity,uncertain-significance,pathogenic,benign,risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.016273/3560 (ALFA)
G=0.000035/1 (TOMMO)
G=0.004685/23 (1000Genomes)
G=0.004968/391 (PAGE_STUDY)
G=0.00565/4 (HapMap)
G=0.011043/2923 (TOPMED)
G=0.01278/3212 (GnomAD_exomes)
G=0.013109/7 (MGP)
G=0.013158/4 (FINRISK)
G=0.013274/1862 (GnomAD)
G=0.013363/1622 (ExAC)
G=0.018682/72 (ALSPAC)
G=0.019957/74 (TWINSUK)
G=0.023884/107 (Estonian)
G=0.028333/17 (NorthernSweden)
G=0.028571/2 (PRJEB36033)
G=0.03006/30 (GoNL)
G=0.05/2 (GENOME_DK)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19956018A>G, NC_000008.10:g.19813529A>G, NG_008855.2:g.59302A>G, NM_000237.3:c.953A>G, NM_000237.2:c.953A>G, NP_000228.1:p.Asn318Ser

PubMed LitVar

Select item 2705.

rs270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:19956165 (GRCh38)
8:19813676 (GRCh37)
Canonical SPDI:: NC_000008.11:19956164:C:A
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.152447/32335 (ALFA)
A=0.064815/14 (Qatari)
A=0.066919/1122 (TOMMO)
A=0.11058/324 (KOREAN)
A=0.114286/24 (Vietnamese)
A=0.114936/217 (HapMap)
A=0.116123/242 (HGDP_Stanford)
A=0.122271/224 (Korea1K)
A=0.125234/627 (1000Genomes)
A=0.133157/151 (Daghestan)
A=0.13503/35741 (TOPMED)
A=0.135271/135 (GoNL)
A=0.142447/19968 (GnomAD)
A=0.15/6 (GENOME_DK)
A=0.162429/626 (ALSPAC)
A=0.162891/604 (TWINSUK)
A=0.164794/88 (MGP)
A=0.175/14 (PRJEB36033)
A=0.190402/853 (Estonian)
A=0.206667/124 (NorthernSweden)
C=0.421569/43 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19956165C>A, NC_000008.10:g.19813676C>A, NG_008855.2:g.59449C>A

PubMed LitVar

Select item 3166.

rs316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:19960925 (GRCh38)
8:19818436 (GRCh37)
Canonical SPDI:: NC_000008.11:19960924:C:A,NC_000008.11:19960924:C:G,NC_000008.11:19960924:C:T
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.126636/26878 (ALFA)
A=0.064371/1079 (TOMMO)
A=0.081332/149 (Korea1K)
A=0.081433/50 (Vietnamese)
A=0.0843/247 (KOREAN)
A=0.099251/53 (MGP)
A=0.112224/112 (GoNL)
A=0.115965/430 (TWINSUK)
A=0.125/5 (GENOME_DK)
A=0.126667/76 (NorthernSweden)
A=0.127141/490 (ALSPAC)
A=0.130435/6 (PRJEB36033)
A=0.143474/299 (HGDP_Stanford)
A=0.150583/284 (HapMap)
A=0.154605/47 (FINRISK)
A=0.155215/777 (1000Genomes)
A=0.15581/177 (Daghestan)
A=0.157139/41593 (TOPMED)
A=0.158619/2063 (GoESP)
A=0.162037/35 (Qatari)
A=0.162071/12755 (PAGE_STUDY)
A=0.169866/761 (Estonian)
C=0.415493/59 (SGDP_PRJ)
C=0.5/7 (Siberian)
HGVS:: NC_000008.11:g.19960925C>A, NC_000008.11:g.19960925C>G, NC_000008.11:g.19960925C>T, NC_000008.10:g.19818436C>A, NC_000008.10:g.19818436C>G, NC_000008.10:g.19818436C>T, NG_008855.2:g.64209C>A, NG_008855.2:g.64209C>G, NG_008855.2:g.64209C>T, NM_000237.3:c.1164C>A, NM_000237.3:c.1164C>G, NM_000237.3:c.1164C>T, NM_000237.2:c.1164C>A, NM_000237.2:c.1164C>G, NM_000237.2:c.1164C>T

PubMed LitVar

Select item 3287.

rs328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:19962213 (GRCh38)
8:19819724 (GRCh37)
Canonical SPDI:: NC_000008.11:19962212:C:A,NC_000008.11:19962212:C:G
Gene:: LPL (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.099621/11450 (ALFA)
G=0.066964/300 (Estonian)
G=0.074074/16 (Qatari)
G=0.074684/59 (PRJEB37584)
G=0.07904/6220 (PAGE_STUDY)
G=0.085/51 (NorthernSweden)
G=0.087925/23273 (TOPMED)
G=0.089338/12522 (GnomAD)
G=0.091711/104 (Daghestan)
G=0.092105/28 (FINRISK)
G=0.092156/23148 (GnomAD_exomes)
G=0.093501/11340 (ExAC)
G=0.093535/468 (1000Genomes)
G=0.097561/32 (HapMap)
G=0.1/4 (GENOME_DK)
G=0.106642/411 (ALSPAC)
G=0.107875/400 (TWINSUK)
G=0.118236/118 (GoNL)
G=0.120819/354 (KOREAN)
G=0.127036/78 (Vietnamese)
G=0.129344/2168 (TOMMO)
G=0.151685/81 (MGP)
G=0.196078/20 (PRJEB36033)
C=0.473684/36 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000008.11:g.19962213C>A, NC_000008.11:g.19962213C>G, NC_000008.10:g.19819724C>A, NC_000008.10:g.19819724C>G, NG_008855.2:g.65497C>A, NG_008855.2:g.65497C>G, NM_000237.3:c.1421C>A, NM_000237.3:c.1421C>G, NM_000237.2:c.1421C>A, NM_000237.2:c.1421C>G, NP_000228.1:p.Ser474Ter, NP_000228.1:p.Ser474Ter

PubMed LitVar

Select item 3338.

rs333 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCAGTATCAATTCTGGAAGAATTTCCAGACA>- [Show Flanks]
Chromosome:: 3:46373456 (GRCh38)
3:46414947 (GRCh37)
Canonical SPDI:: NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Clinical significance:: risk-factor,protective,benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.092857/2358 (ALFA)
-=0.000071/1 (TOMMO)
-=0.00463/1 (Vietnamese)
-=0.024652/1940 (PAGE_STUDY)
-=0.029357/147 (1000Genomes)
-=0.060429/755 (GoESP)
-=0.072628/8805 (ExAC)
-=0.074164/275 (TWINSUK)
-=0.074261/18640 (GnomAD_exomes)
-=0.074329/10414 (GnomAD)
-=0.093669/361 (ALSPAC)
-=0.106667/64 (NorthernSweden)
-=0.117857/528 (Estonian)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000003.12:g.46373456_46373487del, NC_000003.11:g.46414947_46414978del, NG_012637.1:g.8315_8346del, NM_000579.4:c.554_585del, NM_000579.3:c.554_585del, NM_001100168.2:c.554_585del, NM_001100168.1:c.554_585del, NM_001394783.1:c.554_585del, NM_001105536.1:c.554_585del, NP_000570.1:p.Ser185fs, NP_001093638.1:p.Ser185fs, NP_001381712.1:p.Ser185fs

PubMed LitVar

Select item 6199.

rs619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:30695846 (GRCh38)
X:30713963 (GRCh37)
Canonical SPDI:: NC_000023.11:30695845:A:G,NC_000023.11:30695845:A:T
Gene:: GK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.322258/20698 (ALFA)
G=0.047619/2 (PRJEB36033)
A=0.184685/41 (SGDP_PRJ)
A=0.2/6 (Siberian)
G=0.231481/25 (Qatari)
G=0.274797/72736 (TOPMED)
G=0.282633/29337 (GnomAD)
G=0.310488/897 (ALSPAC)
G=0.311759/1177 (1000Genomes)
G=0.327513/619 (HapMap)
G=0.32767/1215 (TWINSUK)
G=0.333013/694 (HGDP_Stanford)
G=0.382979/18 (Vietnamese)
G=0.457634/5877 (TOMMO)
G=0.48942/1434 (KOREAN)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000023.11:g.30695846A>G, NC_000023.11:g.30695846A>T, NC_000023.10:g.30713963A>G, NC_000023.10:g.30713963A>T, NG_008178.1:g.47488A>G, NG_008178.1:g.47488A>T

PubMed LitVar

Select item 66210.

rs662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:95308134 (GRCh38)
7:94937446 (GRCh37)
Canonical SPDI:: NC_000007.14:95308133:T:A,NC_000007.14:95308133:T:C,NC_000007.14:95308133:T:G
Gene:: PON1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,risk-factor,association
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.315298/111601 (ALFA)
G=0./0 (KOREAN)
C=0.214286/6 (PRJEB36033)
C=0.247991/1111 (Estonian)
C=0.253333/152 (NorthernSweden)
T=0.2675/107 (SGDP_PRJ)
C=0.276316/84 (FINRISK)
C=0.278857/1034 (TWINSUK)
C=0.283567/283 (GoNL)
C=0.290348/1119 (ALSPAC)
T=0.294788/181 (Vietnamese)
C=0.3/12 (GENOME_DK)
C=0.301431/337 (Daghestan)
C=0.307116/164 (MGP)
T=0.333888/5595 (TOMMO)
T=0.347826/16 (Siberian)
C=0.377047/45735 (ExAC)
C=0.378433/95101 (GnomAD_exomes)
C=0.37963/82 (Qatari)
C=0.422151/59042 (GnomAD)
T=0.42789/807 (HapMap)
T=0.428751/33741 (PAGE_STUDY)
C=0.445619/117951 (TOPMED)
T=0.457214/2290 (1000Genomes)
C=0.491363/1024 (HGDP_Stanford)
T=0.491525/174 (PharmGKB)
HGVS:: NC_000007.14:g.95308134T>A, NC_000007.14:g.95308134T>C, NC_000007.14:g.95308134T>G, NC_000007.13:g.94937446T>A, NC_000007.13:g.94937446T>C, NC_000007.13:g.94937446T>G, NG_008779.2:g.21573A>T, NG_008779.2:g.21573A>G, NG_008779.2:g.21573A>C, NM_000446.7:c.575A>T, NM_000446.7:c.575A>G, NM_000446.7:c.575A>C, NM_000446.6:c.575A>T, NM_000446.6:c.575A>G, NM_000446.6:c.575A>C, NM_000446.5:c.575A>T, NM_000446.5:c.575A>G, NM_000446.5:c.575A>C, NP_000437.3:p.Gln192Leu, NP_000437.3:p.Gln192Arg, NP_000437.3:p.Gln192Pro

PubMed LitVar

Select item 66911.

rs669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9079672 (GRCh38)
12:9232268 (GRCh37)
Canonical SPDI:: NC_000012.12:9079671:T:C
Gene:: A2M (Varview), KLRG1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.325774/116788 (ALFA)
C=0.063168/1059 (TOMMO)
C=0.075085/220 (KOREAN)
C=0.091139/72 (PRJEB37584)
C=0.096248/59 (Vietnamese)
C=0.181818/12 (PRJEB36033)
C=0.185185/40 (Qatari)
C=0.243386/276 (Daghestan)
C=0.246398/513 (HGDP_Stanford)
C=0.246554/465 (HapMap)
C=0.261868/1311 (1000Genomes)
C=0.280363/22064 (PAGE_STUDY)
C=0.301498/161 (MGP)
C=0.309818/77045 (GnomAD_exomes)
C=0.310214/37096 (ExAC)
C=0.318165/84215 (TOPMED)
C=0.331337/46407 (GnomAD)
C=0.337379/1251 (TWINSUK)
C=0.337675/337 (GoNL)
C=0.344837/1329 (ALSPAC)
C=0.365/219 (NorthernSweden)
T=0.365/73 (SGDP_PRJ)
C=0.375/15 (GENOME_DK)
C=0.405134/1815 (Estonian)
C=0.424342/129 (FINRISK)
T=0.428571/12 (Siberian)
HGVS:: NC_000012.12:g.9079672T>C, NC_000012.11:g.9232268T>C, NG_011717.2:g.41291A>G, NM_000014.6:c.2998A>G, NM_000014.5:c.2998A>G, NM_000014.4:c.2998A>G, NM_001347424.2:c.2698A>G, NM_001347424.1:c.2698A>G, NM_001347423.2:c.2998A>G, NM_001347423.1:c.2998A>G, NM_001347425.2:c.2548A>G, NM_001347425.1:c.2548A>G, XM_006719056.4:c.2998A>G, XM_006719056.3:c.2998A>G, XM_006719056.2:c.2998A>G, XM_006719056.1:c.2998A>G, NP_000005.3:p.Ile1000Val, NP_001334353.2:p.Ile900Val, NP_001334352.2:p.Ile1000Val, NP_001334354.2:p.Ile850Val, XP_006719119.1:p.Ile1000Val

PubMed LitVar

Select item 67112.

rs671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111803962 (GRCh38)
12:112241766 (GRCh37)
Canonical SPDI:: NC_000012.12:111803961:G:A
Gene:: ALDH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: risk-factor,pathogenic,drug-response,protective
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006055/1921 (ALFA)
A=0./0 (PRJEB36033)
A=0./0 (TWINSUK)
A=0.001038/4 (ALSPAC)
A=0.005396/6 (Daghestan)
A=0.005957/835 (GnomAD)
A=0.008958/2371 (TOPMED)
A=0.018882/4582 (GnomAD_exomes)
A=0.021287/1878 (ExAC)
A=0.027166/2138 (PAGE_STUDY)
A=0.033573/168 (1000Genomes)
A=0.129921/99 (HapMap)
A=0.155568/285 (Korea1K)
A=0.172591/505 (KOREAN)
A=0.194034/3252 (TOMMO)
A=0.208609/126 (Vietnamese)
G=0.5/11 (SGDP_PRJ)
HGVS:: NC_000012.12:g.111803962G>A, NC_000012.11:g.112241766G>A, NG_012250.2:g.42076G>A, NM_000690.4:c.1510G>A, NM_000690.3:c.1510G>A, NM_001204889.2:c.1369G>A, NM_001204889.1:c.1369G>A, NP_000681.2:p.Glu504Lys, NP_001191818.1:p.Glu457Lys

PubMed LitVar

Select item 67513.

rs675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 11:116820959 (GRCh38)
11:116691675 (GRCh37)
Canonical SPDI:: NC_000011.10:116820958:T:A,NC_000011.10:116820958:T:C,NC_000011.10:116820958:T:G
Gene:: APOA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.168652/15091 (ALFA)
A=0.000546/1 (Korea1K)
A=0.003788/3 (PRJEB37584)
A=0.004886/3 (Vietnamese)
G=0.009615/1 (SGDP_PRJ)
A=0.1/4 (GENOME_DK)
A=0.101031/506 (1000Genomes)
A=0.103659/34 (HapMap)
A=0.108135/8510 (PAGE_STUDY)
A=0.146667/88 (NorthernSweden)
A=0.147887/42 (PharmGKB)
A=0.148026/45 (FINRISK)
A=0.153659/40672 (TOPMED)
A=0.16854/2189 (GoESP)
A=0.178571/800 (Estonian)
A=0.191011/102 (MGP)
A=0.202405/202 (GoNL)
A=0.212963/46 (Qatari)
A=0.4/4 (Siberian)
HGVS:: NC_000011.10:g.116820959T>A, NC_000011.10:g.116820959T>C, NC_000011.10:g.116820959T>G, NC_000011.9:g.116691675T>A, NC_000011.9:g.116691675T>C, NC_000011.9:g.116691675T>G, NG_012044.1:g.7337A>T, NG_012044.1:g.7337A>G, NG_012044.1:g.7337A>C, NM_000482.4:c.1099A>T, NM_000482.4:c.1099A>G, NM_000482.4:c.1099A>C, NM_000482.3:c.1099A>T, NM_000482.3:c.1099A>G, NM_000482.3:c.1099A>C, NP_000473.2:p.Thr367Ser, NP_000473.2:p.Thr367Ala, NP_000473.2:p.Thr367Pro

PubMed LitVar

Select item 68314.

rs683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:12709305 (GRCh38)
9:12709305 (GRCh37)
Canonical SPDI:: NC_000009.12:12709304:C:A
Gene:: TYRP1 (Varview), LURAP1L-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.394186/116091 (ALFA)
A=0.000389/7 (TOMMO)
A=0.004107/12 (KOREAN)
A=0.011364/9 (PRJEB37584)
A=0.018692/4 (Vietnamese)
A=0.2/2 (PRJEB36033)
A=0.254997/1277 (1000Genomes)
C=0.255/153 (NorthernSweden)
A=0.269345/21191 (PAGE_STUDY)
A=0.276657/576 (HGDP_Stanford)
A=0.277778/60 (Qatari)
A=0.281285/508 (HapMap)
C=0.302455/1355 (Estonian)
C=0.324649/324 (GoNL)
C=0.326861/1212 (TWINSUK)
C=0.333333/14 (Siberian)
C=0.349507/1347 (ALSPAC)
C=0.35/14 (GENOME_DK)
C=0.350877/80 (SGDP_PRJ)
A=0.374532/200 (MGP)
A=0.438585/116089 (TOPMED)
A=0.480151/67104 (GnomAD)
HGVS:: NC_000009.12:g.12709305C>A, NC_000009.11:g.12709305C>A, NG_011705.1:g.20920C>A, NM_000550.3:c.*123C>A, NM_000550.2:c.*123C>A

PubMed LitVar

Select item 68415.

rs684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44886246 (GRCh38)
21:46306161 (GRCh37)
Canonical SPDI:: NC_000021.9:44886245:C:T
Gene:: ITGB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.222961/19576 (ALFA)
T=0.051887/11 (Vietnamese)
T=0.069288/37 (MGP)
T=0.086383/1448 (TOMMO)
T=0.098294/288 (KOREAN)
T=0.101528/186 (Korea1K)
T=0.15873/300 (HapMap)
T=0.160837/805 (1000Genomes)
T=0.170029/354 (HGDP_Stanford)
T=0.186901/117 (Chileans)
T=0.195345/51706 (TOPMED)
T=0.196943/27552 (GnomAD)
T=0.213025/821 (ALSPAC)
T=0.213333/128 (NorthernSweden)
T=0.223571/829 (TWINSUK)
T=0.225/9 (GENOME_DK)
T=0.225451/225 (GoNL)
T=0.231696/1038 (Estonian)
T=0.263889/57 (Qatari)
T=0.266667/24 (PRJEB36033)
C=0.45/72 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000021.9:g.44886246C>T, NC_000021.8:g.46306161C>T, NG_007270.2:g.47593G>A, NM_000211.5:c.*122G>A, NM_000211.4:c.*122G>A, NM_000211.3:c.*122G>A, NM_001127491.3:c.*122G>A, NM_001127491.2:c.*122G>A, NM_001127491.1:c.*122G>A, NM_001303238.2:c.*122G>A, NM_001303238.1:c.*122G>A, XM_006724001.3:c.*122G>A, XM_006724001.2:c.*122G>A, XM_006724001.1:c.*122G>A, XM_047440763.1:c.*122G>A

PubMed

Select item 68816.

rs688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11116926 (GRCh38)
19:11227602 (GRCh37)
Canonical SPDI:: NC_000019.10:11116925:C:T
Gene:: LDLR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.419703/111432 (ALFA)
T=0.123717/2073 (TOMMO)
T=0.144178/421 (KOREAN)
T=0.211945/401 (HapMap)
T=0.212662/131 (Vietnamese)
T=0.271393/1359 (1000Genomes)
T=0.289347/603 (HGDP_Stanford)
T=0.320832/84921 (TOPMED)
C=0.333333/6 (Siberian)
T=0.33392/46708 (GnomAD)
T=0.33523/4360 (GoESP)
C=0.347656/89 (SGDP_PRJ)
T=0.353333/212 (NorthernSweden)
T=0.375/15 (GENOME_DK)
T=0.378118/45902 (ExAC)
T=0.389173/97866 (GnomAD_exomes)
T=0.400749/214 (MGP)
T=0.403795/1809 (Estonian)
T=0.4375/133 (FINRISK)
T=0.444714/1649 (TWINSUK)
T=0.452257/1743 (ALSPAC)
T=0.452906/452 (GoNL)
T=0.467593/101 (Qatari)
C=0.468085/44 (PRJEB36033)
T=0.495208/310 (Chileans)
HGVS:: NC_000019.10:g.11116926C>T, NC_000019.9:g.11227602C>T, NG_009060.1:g.32546C>T, NM_000527.5:c.1773C>T, NM_000527.4:c.1773C>T, NM_001195798.2:c.1773C>T, NM_001195798.1:c.1773C>T, NM_001195799.2:c.1650C>T, NM_001195799.1:c.1650C>T, NM_001195800.2:c.1269C>T, NM_001195800.1:c.1269C>T, NM_001195803.2:c.1392C>T, NM_001195803.1:c.1392C>T, XM_011528010.3:c.1773C>T, XM_011528010.2:c.1773C>T, XM_011528010.1:c.1773C>T, NM_001195802.1:c.1410C>T

PubMed LitVar

Select item 69317.

rs693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:21009323 (GRCh38)
2:21232195 (GRCh37)
Canonical SPDI:: NC_000002.12:21009322:G:A
Gene:: APOB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: drug-response,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.462493/115282 (ALFA)
A=0.041829/701 (TOMMO)
A=0.048101/38 (PRJEB37584)
A=0.054415/159 (KOREAN)
A=0.066558/41 (Vietnamese)
A=0.239429/453 (HapMap)
A=0.258588/1295 (1000Genomes)
A=0.259117/540 (HGDP_Stanford)
A=0.268519/58 (Qatari)
A=0.270147/21260 (PAGE_STUDY)
A=0.329787/124 (PharmGKB)
G=0.34375/11 (Siberian)
A=0.375/15 (GENOME_DK)
A=0.375216/99316 (TOPMED)
A=0.383598/435 (Daghestan)
A=0.384984/241 (Chileans)
A=0.387218/54178 (GnomAD)
A=0.388555/97584 (GnomAD_exomes)
A=0.389935/47296 (ExAC)
A=0.413886/5383 (GoESP)
A=0.414474/126 (FINRISK)
G=0.421875/81 (SGDP_PRJ)
G=0.428333/257 (NorthernSweden)
G=0.46493/464 (GoNL)
A=0.473783/253 (MGP)
A=0.475/2128 (Estonian)
G=0.487805/1880 (ALSPAC)
G=0.488943/1813 (TWINSUK)
G=0.5/42 (PRJEB36033)
HGVS:: NC_000002.12:g.21009323G>A, NC_000002.11:g.21232195G>A, NG_011793.1:g.39751C>T, NM_000384.3:c.7545C>T, NM_000384.2:c.7545C>T, NW_025791767.1:g.59991G>A

PubMed LitVar

Select item 69618.

rs696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:35401887 (GRCh38)
14:35871093 (GRCh37)
Canonical SPDI:: NC_000014.9:35401886:C:G,NC_000014.9:35401886:C:T
Gene:: NFKBIA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.392834/32540 (ALFA)
T=0.307099/5147 (TOMMO)
T=0.346653/1336 (ALSPAC)
T=0.349488/1024 (KOREAN)
T=0.35/14 (GENOME_DK)
C=0.354749/127 (SGDP_PRJ)
T=0.357533/655 (Korea1K)
T=0.363269/1347 (TWINSUK)
T=0.365731/365 (GoNL)
T=0.365885/281 (PRJEB37584)
T=0.405134/1815 (Estonian)
C=0.423077/11 (Siberian)
T=0.423333/254 (NorthernSweden)
T=0.426442/887 (HGDP_Stanford)
T=0.433333/26 (PRJEB36033)
T=0.441452/116848 (TOPMED)
T=0.446532/62519 (GnomAD)
T=0.463616/2322 (1000Genomes)
T=0.475661/899 (HapMap)
C=0.49537/107 (Vietnamese)
C=0.5/108 (Qatari)
HGVS:: NC_000014.9:g.35401887C>G, NC_000014.9:g.35401887C>T, NC_000014.8:g.35871093C>G, NC_000014.8:g.35871093C>T, NG_007571.1:g.7852G>C, NG_007571.1:g.7852G>A, NM_020529.3:c.*126G>C, NM_020529.3:c.*126G>A, NM_020529.2:c.*126G>C, NM_020529.2:c.*126G>A

PubMed LitVar

Select item 69819.

rs698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:99339632 (GRCh38)
4:100260789 (GRCh37)
Canonical SPDI:: NC_000004.12:99339631:T:A,NC_000004.12:99339631:T:C
Gene:: ADH1C (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: protective
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.367943/103810 (ALFA)
C=0.05802/170 (KOREAN)
C=0.060478/1014 (TOMMO)
C=0.078704/17 (Vietnamese)
C=0.086076/68 (PRJEB37584)
C=0.156425/56 (PharmGKB)
C=0.200954/379 (HapMap)
C=0.214085/1072 (1000Genomes)
C=0.286849/75926 (TOPMED)
T=0.305556/11 (Siberian)
C=0.310185/67 (Qatari)
C=0.312734/167 (MGP)
C=0.314681/43959 (GnomAD)
C=0.344391/41557 (ExAC)
C=0.345769/85871 (GnomAD_exomes)
C=0.397509/1532 (ALSPAC)
C=0.4/16 (GENOME_DK)
T=0.40367/88 (SGDP_PRJ)
C=0.407816/407 (GoNL)
C=0.410194/1521 (TWINSUK)
T=0.495/297 (NorthernSweden)
T=0.499107/2236 (Estonian)
HGVS:: NC_000004.12:g.99339632T>A, NC_000004.12:g.99339632T>C, NC_000004.11:g.100260789T>A, NC_000004.11:g.100260789T>C, NG_011718.1:g.18129A>T, NG_011718.1:g.18129A>G, NM_000669.5:c.1048A>T, NM_000669.5:c.1048A>G, NM_000669.4:c.1048A>T, NM_000669.4:c.1048A>G, NM_000669.3:c.1048A>T, NM_000669.3:c.1048A>G, NR_133005.2:n.1075A>T, NR_133005.2:n.1075A>G, NR_133005.1:n.1374A>T, NR_133005.1:n.1374A>G, NP_000660.1:p.Ile350Phe, NP_000660.1:p.Ile350Val

PubMed LitVar

Select item 69920.

rs699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:230710048 (GRCh38)
1:230845794 (GRCh37)
Canonical SPDI:: NC_000001.11:230710047:A:G
Gene:: AGT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.454868/172002 (ALFA)
A=0.106209/65 (Vietnamese)
A=0.174672/320 (Korea1K)
A=0.182191/3054 (TOMMO)
A=0.19727/578 (KOREAN)
A=0.201681/96 (SGDP_PRJ)
A=0.25972/20440 (PAGE_STUDY)
A=0.26797/507 (HapMap)
A=0.293879/1472 (1000Genomes)
A=0.302303/630 (HGDP_Stanford)
A=0.3125/1000 (PharmGKB)
G=0.325/13 (GENOME_DK)
A=0.347826/16 (Siberian)
G=0.375/114 (FINRISK)
G=0.388333/233 (NorthernSweden)
G=0.388889/28 (PRJEB36033)
G=0.395433/1524 (ALSPAC)
A=0.396245/104882 (TOPMED)
G=0.397004/212 (MGP)
G=0.401804/401 (GoNL)
G=0.411273/1525 (TWINSUK)
A=0.422977/59276 (GnomAD)
A=0.425926/92 (Qatari)
A=0.451568/54768 (ExAC)
A=0.451859/113572 (GnomAD_exomes)
G=0.480134/2151 (Estonian)
HGVS:: NC_000001.11:g.230710048A>G, NC_000001.10:g.230845794A>G, NG_008836.2:g.9543T>C, NM_000029.4:c.803T>C, NM_001382817.1:c.803T>C, NM_001382817.3:c.776T>C, NM_001382817.2:c.776T>C, NM_000029.3:c.803T>C, NM_001384479.1:c.776T>C, NP_001369746.2:p.Met259Thr, NP_001371408.1:p.Met259Thr

PubMed LitVar

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