CDC123 - SNP

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Select item 1402822561.

rs140282256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12249577 (GRCh38)
10:12291576 (GRCh37)
Canonical SPDI:: NC_000010.11:12249576:A:G
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/20 (ALFA)
G=0.000077/1 (GoESP)
G=0.000259/1 (ALSPAC)
G=0.00027/1 (TWINSUK)
G=0.000535/75 (GnomAD)
G=0.0013/344 (TOPMED)
G=0.008838/2178 (GnomAD_exomes)
G=0.009259/2 (Qatari)
G=0.009764/1183 (ExAC)
G=0.013585/68 (1000Genomes)
G=0.014634/9 (Vietnamese)
G=0.020773/348 (TOMMO)
G=0.030459/89 (KOREAN)
A=0.5/5 (SGDP_PRJ)
HGVS:: NC_000010.11:g.12249577A>G, NC_000010.10:g.12291576A>G

Select item 1493668292.

rs149366829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:12230999 (GRCh38)
10:12272998 (GRCh37)
Canonical SPDI:: NC_000010.11:12230998:A:C
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002274/112 (ALFA)
C=0.001116/5 (Estonian)
C=0.001369/4 (KOREAN)
C=0.001462/19 (GoESP)
C=0.001628/27 (TOMMO)
C=0.001873/1 (MGP)
C=0.002004/2 (GoNL)
C=0.002196/308 (GnomAD)
C=0.002455/295 (ExAC)
C=0.002498/13 (1000Genomes)
C=0.002717/671 (GnomAD_exomes)
C=0.002729/5 (Korea1K)
C=0.002803/742 (TOPMED)
C=0.002967/11 (TWINSUK)
C=0.003114/12 (ALSPAC)
C=0.003289/1 (FINRISK)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000010.11:g.12230999A>C, NC_000010.10:g.12272998A>C

Select item 79683.

rs7968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:12250485 (GRCh38)
10:12292484 (GRCh37)
Canonical SPDI:: NC_000010.11:12250484:G:A
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000010.11:g.12250485G>A, NC_000010.10:g.12292484G>A, XM_005252638.5:c.*148G>A, XM_005252638.4:c.*148G>A, XM_005252638.3:c.*148G>A, XM_005252638.2:c.*148G>A, XM_005252638.1:c.*148G>A, NM_006023.3:c.*148G>A, NM_006023.2:c.*148G>A

Select item 109514.

rs10951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:12250345 (GRCh38)
10:12292344 (GRCh37)
Canonical SPDI:: NC_000010.11:12250344:A:C,NC_000010.11:12250344:A:G,NC_000010.11:12250344:A:T
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.397664/58863 (ALFA)
A=0.231987/425 (Korea1K)
A=0.233788/685 (KOREAN)
A=0.248531/4165 (TOMMO)
A=0.25/54 (Qatari)
A=0.252988/127 (SGDP_PRJ)
A=0.291667/14 (Siberian)
A=0.329193/106 (HapMap)
A=0.344569/184 (MGP)
A=0.345409/1730 (1000Genomes)
A=0.356549/94375 (TOPMED)
A=0.371675/4834 (GoESP)
A=0.388158/118 (FINRISK)
A=0.401339/1798 (Estonian)
A=0.415/249 (NorthernSweden)
A=0.424494/1636 (ALSPAC)
A=0.426915/1583 (TWINSUK)
A=0.443888/443 (GoNL)
G=0.45/18 (GENOME_DK)
HGVS:: NC_000010.11:g.12250345A>C, NC_000010.11:g.12250345A>G, NC_000010.11:g.12250345A>T, NC_000010.10:g.12292344A>C, NC_000010.10:g.12292344A>G, NC_000010.10:g.12292344A>T, XM_005252638.5:c.*8A>C, XM_005252638.5:c.*8A>G, XM_005252638.5:c.*8A>T, XM_005252638.4:c.*8A>C, XM_005252638.4:c.*8A>G, XM_005252638.4:c.*8A>T, XM_005252638.3:c.*8A>C, XM_005252638.3:c.*8A>G, XM_005252638.3:c.*8A>T, XM_005252638.2:c.*8A>C, XM_005252638.2:c.*8A>G, XM_005252638.2:c.*8A>T, XM_005252638.1:c.*8A>C, XM_005252638.1:c.*8A>G, XM_005252638.1:c.*8A>T, NM_006023.3:c.*8A>C, NM_006023.3:c.*8A>G, NM_006023.3:c.*8A>T, NM_006023.2:c.*8A>C, NM_006023.2:c.*8A>G, NM_006023.2:c.*8A>T

Select item 121265.

rs12126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:12250566 (GRCh38)
10:12292565 (GRCh37)
Canonical SPDI:: NC_000010.11:12250565:T:A
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.014821/303 (ALFA)
A=0./0 (TWINSUK)
A=0.000259/1 (ALSPAC)
A=0.001002/1 (GoNL)
A=0.001339/6 (Estonian)
A=0.010808/409 (GnomAD_exomes)
A=0.027021/3790 (GnomAD)
A=0.027778/6 (Qatari)
A=0.028603/204 (ExAC)
A=0.029518/7813 (TOPMED)
A=0.050398/3966 (PAGE_STUDY)
A=0.054185/271 (1000Genomes)
A=0.09116/1528 (TOMMO)
A=0.092249/169 (Korea1K)
A=0.093174/273 (KOREAN)
A=0.111111/24 (Vietnamese)
T=0.5/2 (Siberian)
T=0.5/24 (SGDP_PRJ)
HGVS:: NC_000010.11:g.12250566T>A, NC_000010.10:g.12292565T>A, XM_005252638.5:c.*229T>A, XM_005252638.4:c.*229T>A, XM_005252638.3:c.*229T>A, XM_005252638.2:c.*229T>A, XM_005252638.1:c.*229T>A, NM_006023.3:c.*229T>A, NM_006023.2:c.*229T>A

Select item 125906.

rs12590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:12250349 (GRCh38)
10:12292348 (GRCh37)
Canonical SPDI:: NC_000010.11:12250348:G:A,NC_000010.11:12250348:G:T
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.159016/7330 (ALFA)
T=0.083333/18 (Qatari)
T=0.125597/368 (KOREAN)
T=0.137414/688 (1000Genomes)
T=0.142791/2393 (TOMMO)
T=0.149004/20874 (GnomAD)
T=0.149027/39446 (TOPMED)
T=0.150623/1959 (GoESP)
T=0.17433/781 (Estonian)
T=0.183498/22237 (ExAC)
T=0.184225/45981 (GnomAD_exomes)
T=0.189139/101 (MGP)
T=0.20109/775 (ALSPAC)
T=0.212244/787 (TWINSUK)
T=0.216667/130 (NorthernSweden)
T=0.222445/222 (GoNL)
T=0.325/13 (GENOME_DK)
G=0.448718/70 (SGDP_PRJ)
G=0.454545/10 (Siberian)
HGVS:: NC_000010.11:g.12250349G>A, NC_000010.11:g.12250349G>T, NC_000010.10:g.12292348G>A, NC_000010.10:g.12292348G>T, XM_005252638.5:c.*12G>A, XM_005252638.5:c.*12G>T, XM_005252638.4:c.*12G>A, XM_005252638.4:c.*12G>T, XM_005252638.3:c.*12G>A, XM_005252638.3:c.*12G>T, XM_005252638.2:c.*12G>A, XM_005252638.2:c.*12G>T, XM_005252638.1:c.*12G>A, XM_005252638.1:c.*12G>T, NM_006023.3:c.*12G>A, NM_006023.3:c.*12G>T, NM_006023.2:c.*12G>A, NM_006023.2:c.*12G>T

Select item 9389917.

rs938991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:12203602 (GRCh38)
10:12245601 (GRCh37)
Canonical SPDI:: NC_000010.11:12203601:A:C,NC_000010.11:12203601:A:G,NC_000010.11:12203601:A:T
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.144637/29572 (ALFA)
T=0./0 (KOREAN)
A=0.090909/8 (PRJEB36033)
A=0.118333/71 (NorthernSweden)
A=0.125/5 (GENOME_DK)
A=0.126374/69 (SGDP_PRJ)
A=0.129808/27 (Vietnamese)
A=0.134574/499 (TWINSUK)
A=0.141499/29018 (GENOGRAPHIC)
A=0.142285/142 (GoNL)
A=0.142857/8 (Siberian)
A=0.148206/2484 (TOMMO)
A=0.15179/585 (ALSPAC)
A=0.162277/727 (Estonian)
A=0.170203/45051 (TOPMED)
A=0.17302/24220 (GnomAD)
A=0.174184/363 (HGDP_Stanford)
A=0.175926/38 (Qatari)
A=0.179894/204 (Daghestan)
A=0.192918/365 (HapMap)
A=0.195815/981 (1000Genomes)
HGVS:: NC_000010.11:g.12203602A>C, NC_000010.11:g.12203602A>G, NC_000010.11:g.12203602A>T, NC_000010.10:g.12245601A>C, NC_000010.10:g.12245601A>G, NC_000010.10:g.12245601A>T

Select item 10510278.

rs1051027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12250376 (GRCh38)
10:12292375 (GRCh37)
Canonical SPDI:: NC_000010.11:12250375:A:G
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000010.11:g.12250376A>G, NC_000010.10:g.12292375A>G, XM_005252638.5:c.*39A>G, XM_005252638.4:c.*39A>G, XM_005252638.3:c.*39A>G, XM_005252638.2:c.*39A>G, XM_005252638.1:c.*39A>G, NM_006023.3:c.*39A>G, NM_006023.2:c.*39A>G

Select item 10510559.

rs1051055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12250455 (GRCh38)
10:12292454 (GRCh37)
Canonical SPDI:: NC_000010.11:12250454:A:G
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.319514/75179 (ALFA)
A=0.1875/9 (Siberian)
A=0.199074/43 (Qatari)
A=0.240614/705 (KOREAN)
A=0.241266/442 (Korea1K)
A=0.242248/125 (SGDP_PRJ)
A=0.249416/4180 (TOMMO)
A=0.285941/541 (HapMap)
A=0.298111/78907 (TOPMED)
A=0.301967/42238 (GnomAD)
A=0.305/183 (NorthernSweden)
A=0.306215/1534 (1000Genomes)
A=0.308989/165 (MGP)
A=0.311415/24968 (ExAC)
A=0.319866/1433 (Estonian)
A=0.321429/18 (PRJEB36033)
A=0.326057/68573 (GnomAD_exomes)
A=0.330451/688 (HGDP_Stanford)
A=0.332237/101 (FINRISK)
A=0.338677/338 (GoNL)
A=0.34493/1279 (TWINSUK)
A=0.350285/1350 (ALSPAC)
G=0.495283/105 (Vietnamese)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000010.11:g.12250455A>G, NC_000010.10:g.12292454A>G, XM_005252638.5:c.*118A>G, XM_005252638.4:c.*118A>G, XM_005252638.3:c.*118A>G, XM_005252638.2:c.*118A>G, XM_005252638.1:c.*118A>G, NM_006023.3:c.*118A>G, NM_006023.2:c.*118A>G

PubMed LitVar

Select item 105106710.

rs1051067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:12250536 (GRCh38)
10:12292535 (GRCh37)
Canonical SPDI:: NC_000010.11:12250535:C:T
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.12250536C>T, NC_000010.10:g.12292535C>T, XM_005252638.5:c.*199C>T, XM_005252638.4:c.*199C>T, XM_005252638.3:c.*199C>T, XM_005252638.2:c.*199C>T, XM_005252638.1:c.*199C>T, NM_006023.3:c.*199C>T, NM_006023.2:c.*199C>T

Select item 106357611.

rs1063576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:12250478 (GRCh38)
10:12292477 (GRCh37)
Canonical SPDI:: NC_000010.11:12250477:A:T
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (ExAC)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.12250478A>T, NC_000010.10:g.12292477A>T, XM_005252638.5:c.*141A>T, XM_005252638.4:c.*141A>T, XM_005252638.3:c.*141A>T, XM_005252638.2:c.*141A>T, XM_005252638.1:c.*141A>T, NM_006023.3:c.*141A>T, NM_006023.2:c.*141A>T

Select item 113146512.

rs1131465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12250351 (GRCh38)
10:12292350 (GRCh37)
Canonical SPDI:: NC_000010.11:12250350:A:G
Gene:: CDC123 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.012527/618 (ALFA)
G=0.001563/7 (Estonian)
G=0.002004/2 (GoNL)
G=0.013109/7 (MGP)
G=0.029217/380 (GoESP)
G=0.037037/8 (Qatari)
G=0.040454/5670 (GnomAD)
G=0.046367/5616 (ExAC)
G=0.049542/12365 (GnomAD_exomes)
G=0.050451/13354 (TOPMED)
G=0.084947/425 (1000Genomes)
G=0.144369/423 (KOREAN)
G=0.187097/3136 (TOMMO)
A=0.457143/32 (SGDP_PRJ)
A=0.5/3 (Siberian)
HGVS:: NC_000010.11:g.12250351A>G, NC_000010.10:g.12292350A>G, XM_005252638.5:c.*14A>G, XM_005252638.4:c.*14A>G, XM_005252638.3:c.*14A>G, XM_005252638.2:c.*14A>G, XM_005252638.1:c.*14A>G, NM_006023.3:c.*14A>G, NM_006023.2:c.*14A>G

Select item 131754813.

rs1317548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:12203521 (GRCh38)
10:12245520 (GRCh37)
Canonical SPDI:: NC_000010.11:12203520:G:A
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.199512/29746 (ALFA)
A=0.134259/29 (Qatari)
A=0.158147/99 (Chileans)
A=0.177902/797 (Estonian)
A=0.18/108 (NorthernSweden)
A=0.204962/760 (TWINSUK)
A=0.20602/794 (ALSPAC)
A=0.207811/29091 (GnomAD)
A=0.208417/208 (GoNL)
A=0.210008/55587 (TOPMED)
A=0.248595/1245 (1000Genomes)
A=0.262963/497 (HapMap)
A=0.303029/5079 (TOMMO)
A=0.325/13 (GENOME_DK)
A=0.343345/1006 (KOREAN)
G=0.357143/10 (Siberian)
G=0.415323/103 (SGDP_PRJ)
A=0.471429/99 (Vietnamese)
HGVS:: NC_000010.11:g.12203521G>A, NC_000010.10:g.12245520G>A

Select item 131754914.

rs1317549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:12203315 (GRCh38)
10:12245314 (GRCh37)
Canonical SPDI:: NC_000010.11:12203314:T:A,NC_000010.11:12203314:T:G
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.395345/29473 (ALFA)
T=0.25/9 (Siberian)
G=0.277778/60 (Vietnamese)
T=0.301932/125 (SGDP_PRJ)
T=0.335/201 (NorthernSweden)
T=0.351852/76 (Qatari)
T=0.371629/1378 (TWINSUK)
T=0.373661/1674 (Estonian)
T=0.380762/380 (GoNL)
T=0.389725/1502 (ALSPAC)
G=0.423035/775 (Korea1K)
G=0.424232/1243 (KOREAN)
T=0.441408/61828 (GnomAD)
T=0.441826/116947 (TOPMED)
T=0.444444/16 (PRJEB36033)
T=0.45/18 (GENOME_DK)
G=0.466841/7824 (TOMMO)
G=0.481243/821 (HapMap)
G=0.481262/2410 (1000Genomes)
T=0.496161/1034 (HGDP_Stanford)
HGVS:: NC_000010.11:g.12203315T>A, NC_000010.11:g.12203315T>G, NC_000010.10:g.12245314T>A, NC_000010.10:g.12245314T>G

Select item 132019315.

rs1320193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:12243053 (GRCh38)
10:12285052 (GRCh37)
Canonical SPDI:: NC_000010.11:12243052:C:T
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000569/8 (ALFA)
T=0./0 (HapMap)
T=0.000521/138 (TOPMED)
T=0.000573/80 (GnomAD)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000010.11:g.12243053C>T, NC_000010.10:g.12285052C>T

Select item 132019516.

rs1320195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:12204106 (GRCh38)
10:12246105 (GRCh37)
Canonical SPDI:: NC_000010.11:12204105:A:C,NC_000010.11:12204105:A:T
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.233889/4268 (ALFA)
T=0.157407/34 (Qatari)
T=0.216667/130 (NorthernSweden)
T=0.218437/218 (GoNL)
T=0.258867/36010 (GnomAD)
T=0.265205/70197 (TOPMED)
T=0.27893/4675 (TOMMO)
T=0.302402/554 (Korea1K)
T=0.309704/1551 (1000Genomes)
T=0.359386/1053 (KOREAN)
A=0.40493/115 (SGDP_PRJ)
A=0.466667/14 (Siberian)
HGVS:: NC_000010.11:g.12204106A>C, NC_000010.11:g.12204106A>T, NC_000010.10:g.12246105A>C, NC_000010.10:g.12246105A>T

Select item 132019617.

rs1320196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:12203133 (GRCh38)
10:12245132 (GRCh37)
Canonical SPDI:: NC_000010.11:12203132:T:A,NC_000010.11:12203132:T:C
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.408546/7840 (ALFA)
T=0.25/9 (Siberian)
T=0.301932/125 (SGDP_PRJ)
T=0.335/201 (NorthernSweden)
T=0.356481/77 (Qatari)
T=0.37055/1374 (TWINSUK)
T=0.372991/1671 (Estonian)
T=0.380762/380 (GoNL)
T=0.389725/1502 (ALSPAC)
C=0.423035/775 (Korea1K)
C=0.424573/1244 (KOREAN)
T=0.441201/61792 (GnomAD)
T=0.44186/116956 (TOPMED)
T=0.45/18 (GENOME_DK)
C=0.466912/7825 (TOMMO)
C=0.481262/2410 (1000Genomes)
HGVS:: NC_000010.11:g.12203133T>A, NC_000010.11:g.12203133T>C, NC_000010.10:g.12245132T>A, NC_000010.10:g.12245132T>C

Select item 187879718.

rs1878797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12243381 (GRCh38)
10:12285380 (GRCh37)
Canonical SPDI:: NC_000010.11:12243380:A:G
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.008699/161 (ALFA)
G=0.010514/1245 (GnomAD)
G=0.010726/2839 (TOPMED)
G=0.01505/9 (NorthernSweden)
G=0.027795/139 (1000Genomes)
G=0.07297/1219 (TOMMO)
G=0.096491/176 (Korea1K)
G=0.112628/330 (KOREAN)
A=0.416667/5 (Siberian)
A=0.478261/22 (SGDP_PRJ)
HGVS:: NC_000010.11:g.12243381A>G, NC_000010.10:g.12285380A>G

Select item 187879819.

rs1878798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:12201484 (GRCh38)
10:12243483 (GRCh37)
Canonical SPDI:: NC_000010.11:12201483:G:C
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.462943/8745 (ALFA)
G=0.2/8 (Siberian)
G=0.315657/125 (SGDP_PRJ)
G=0.32243/69 (Vietnamese)
C=0.375/81 (Qatari)
C=0.441667/265 (NorthernSweden)
C=0.448661/2010 (Estonian)
G=0.450311/145 (HapMap)
C=0.466289/1729 (TWINSUK)
C=0.470899/65874 (GnomAD)
C=0.471778/124875 (TOPMED)
C=0.472756/1822 (ALSPAC)
C=0.47996/479 (GoNL)
C=0.481138/8064 (TOMMO)
G=0.483618/1417 (KOREAN)
G=0.48376/2423 (1000Genomes)
C=0.496725/910 (Korea1K)
G=0.5/20 (GENOME_DK)
HGVS:: NC_000010.11:g.12201484G>C, NC_000010.10:g.12243483G>C

LitVar

Select item 200154620.

rs2001546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:12243736 (GRCh38)
10:12285735 (GRCh37)
Canonical SPDI:: NC_000010.11:12243735:A:T
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.470024/8875 (ALFA)
A=0.28125/9 (Siberian)
A=0.317935/117 (SGDP_PRJ)
T=0.379138/1899 (1000Genomes)
T=0.425/17 (GENOME_DK)
T=0.425653/112666 (TOPMED)
T=0.426858/59329 (GnomAD)
A=0.435185/94 (Qatari)
T=0.439956/806 (Korea1K)
T=0.446416/1308 (KOREAN)
A=0.453333/272 (NorthernSweden)
T=0.475899/7976 (TOMMO)
A=0.489213/1814 (TWINSUK)
A=0.492851/2206 (Estonian)
A=0.494292/1905 (ALSPAC)
A=0.5/499 (GoNL)
HGVS:: NC_000010.11:g.12243736A>T, NC_000010.10:g.12285735A>T

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