STK32A - SNP

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Select item 353812741.

rs35381274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:147399154 (GRCh38)
5:146778717 (GRCh37)
Canonical SPDI:: NC_000005.10:147399153:C:A,NC_000005.10:147399153:C:G,NC_000005.10:147399153:C:T
Gene:: DPYSL3 (Varview), STK32A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.002339/104 (ALFA)
G=0./0 (TWINSUK)
G=0.000259/1 (ALSPAC)
G=0.003745/2 (MGP)
G=0.005313/1326 (GnomAD_exomes)
G=0.006475/782 (ExAC)
G=0.023122/282 (GoESP)
G=0.023148/5 (Qatari)
G=0.023267/117 (1000Genomes)
C=0.5/6 (SGDP_PRJ)
HGVS:: NC_000005.10:g.147399154C>A, NC_000005.10:g.147399154C>G, NC_000005.10:g.147399154C>T, NC_000005.9:g.146778717C>A, NC_000005.9:g.146778717C>G, NC_000005.9:g.146778717C>T, NM_001387.3:c.1209G>T, NM_001387.3:c.1209G>C, NM_001387.3:c.1209G>A, NM_001387.2:c.1209G>T, NM_001387.2:c.1209G>C, NM_001387.2:c.1209G>A, XM_011537574.3:c.1197G>T, XM_011537574.3:c.1197G>C, XM_011537574.3:c.1197G>A, XM_011537574.2:c.1197G>T, XM_011537574.2:c.1197G>C, XM_011537574.2:c.1197G>A, XM_011537574.1:c.1197G>T, XM_011537574.1:c.1197G>C, XM_011537574.1:c.1197G>A, NM_001197294.2:c.1551G>T, NM_001197294.2:c.1551G>C, NM_001197294.2:c.1551G>A, NM_001197294.1:c.1551G>T, NM_001197294.1:c.1551G>C, NM_001197294.1:c.1551G>A

Select item 585621582.

rs58562158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:147400843 (GRCh38)
5:146780406 (GRCh37)
Canonical SPDI:: NC_000005.10:147400842:G:A
Gene:: DPYSL3 (Varview), STK32A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.016105/383 (ALFA)
A=0.001873/1 (MGP)
A=0.007732/1916 (GnomAD_exomes)
A=0.009999/1188 (ExAC)
A=0.013889/3 (Qatari)
A=0.032281/413 (GoESP)
A=0.034056/4776 (GnomAD)
A=0.035849/9489 (TOPMED)
A=0.040443/203 (1000Genomes)
G=0.45/9 (SGDP_PRJ)
HGVS:: NC_000005.10:g.147400843G>A, NC_000005.9:g.146780406G>A

Select item 9625987793.

rs962598779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:147395716 (GRCh38)
5:146775279 (GRCh37)
Canonical SPDI:: NC_000005.10:147395715:T:G
Gene:: DPYSL3 (Varview), STK32A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000064/17 (TOPMED)
G=0.0001/14 (GnomAD)
HGVS:: NC_000005.10:g.147395716T>G, NC_000005.9:g.146775279T>G, NM_001387.3:c.1467A>C, NM_001387.2:c.1467A>C, XM_011537574.3:c.1455A>C, XM_011537574.2:c.1455A>C, XM_011537574.1:c.1455A>C, NM_001197294.2:c.1809A>C, NM_001197294.1:c.1809A>C

Select item 130024.

rs13002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:147391182 (GRCh38)
5:146770745 (GRCh37)
Canonical SPDI:: NC_000005.10:147391181:A:G
Gene:: DPYSL3 (Varview), STK32A (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.147391182A>G, NC_000005.9:g.146770745A>G, NM_001387.3:c.*2853T>C, NM_001387.2:c.*2853T>C, XM_011537574.3:c.*2853T>C, XM_011537574.1:c.*2853T>C, NM_001197294.2:c.*2853T>C, NM_001197294.1:c.*2853T>C

Select item 134955.

rs13495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:147391064 (GRCh38)
5:146770627 (GRCh37)
Canonical SPDI:: NC_000005.10:147391063:A:G
Gene:: DPYSL3 (Varview), STK32A (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.147391064A>G, NC_000005.9:g.146770627A>G, NM_001387.3:c.*2971T>C, NM_001387.2:c.*2971T>C, XM_011537574.3:c.*2971T>C, XM_011537574.1:c.*2971T>C, NM_001197294.2:c.*2971T>C, NM_001197294.1:c.*2971T>C

Select item 310326.

rs31032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:147233251 (GRCh38)
5:146612814 (GRCh37)
Canonical SPDI:: NC_000005.10:147233250:T:A,NC_000005.10:147233250:T:C,NC_000005.10:147233250:T:G
Gene:: STK32A (Varview), STK32A-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.154783/9074 (ALFA)
C=0./0 (KOREAN)
T=0.023364/5 (Vietnamese)
T=0.038821/651 (TOMMO)
T=0.048581/89 (Korea1K)
T=0.101476/55 (SGDP_PRJ)
T=0.1104/707 (1000Genomes)
T=0.12963/7 (Siberian)
T=0.130986/18119 (GnomAD)
T=0.136586/36153 (TOPMED)
T=0.14219/548 (ALSPAC)
T=0.144289/144 (GoNL)
T=0.146429/656 (Estonian)
T=0.14644/543 (TWINSUK)
T=0.15/6 (GENOME_DK)
T=0.157407/34 (Qatari)
T=0.171667/103 (NorthernSweden)
HGVS:: NC_000005.10:g.147233251T>A, NC_000005.10:g.147233251T>C, NC_000005.10:g.147233251T>G, NC_000005.9:g.146612814T>A, NC_000005.9:g.146612814T>C, NC_000005.9:g.146612814T>G

Select item 310337.

rs31033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:147233733 (GRCh38)
5:146613296 (GRCh37)
Canonical SPDI:: NC_000005.10:147233732:C:G
Gene:: STK32A (Varview), STK32A-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.380254/7183 (ALFA)
C=0.067238/1127 (TOMMO)
C=0.095238/4 (Siberian)
C=0.1/21 (Vietnamese)
C=0.106485/312 (KOREAN)
C=0.205179/103 (SGDP_PRJ)
C=0.322767/1616 (1000Genomes)
C=0.341683/341 (GoNL)
C=0.35/14 (GENOME_DK)
C=0.350893/1572 (Estonian)
C=0.363259/1400 (ALSPAC)
C=0.374326/1388 (TWINSUK)
C=0.375/81 (Qatari)
C=0.381931/30058 (PAGE_STUDY)
C=0.386729/54098 (GnomAD)
C=0.393706/104210 (TOPMED)
C=0.416667/250 (NorthernSweden)
HGVS:: NC_000005.10:g.147233733C>G, NC_000005.9:g.146613296C>G

Select item 310348.

rs31034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:147234299 (GRCh38)
5:146613862 (GRCh37)
Canonical SPDI:: NC_000005.10:147234298:G:A,NC_000005.10:147234298:G:C
Gene:: STK32A (Varview), STK32A-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.442322/14985 (ALFA)
G=0.243534/113 (SGDP_PRJ)
G=0.25/12 (Siberian)
G=0.268259/786 (KOREAN)
G=0.333345/5586 (TOMMO)
G=0.335528/26396 (PAGE_STUDY)
G=0.34434/73 (Vietnamese)
G=0.346398/654 (HapMap)
G=0.367427/1840 (1000Genomes)
G=0.39136/103589 (TOPMED)
G=0.409237/57240 (GnomAD)
A=0.42/252 (NorthernSweden)
A=0.45/18 (GENOME_DK)
G=0.453704/98 (Qatari)
G=0.47384/1757 (TWINSUK)
G=0.481318/1855 (ALSPAC)
G=0.485972/485 (GoNL)
G=0.498214/2232 (Estonian)
HGVS:: NC_000005.10:g.147234299G>A, NC_000005.10:g.147234299G>C, NC_000005.9:g.146613862G>A, NC_000005.9:g.146613862G>C

Select item 310359.

rs31035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:147234380 (GRCh38)
5:146613943 (GRCh37)
Canonical SPDI:: NC_000005.10:147234379:C:A,NC_000005.10:147234379:C:T
Gene:: STK32A (Varview), STK32A-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.189994/2514 (ALFA)
A=0.231481/50 (Qatari)
A=0.269957/71455 (TOPMED)
A=0.275765/1381 (1000Genomes)
A=0.283333/170 (NorthernSweden)
A=0.291905/1125 (ALSPAC)
A=0.3/12 (GENOME_DK)
A=0.301241/1117 (TWINSUK)
A=0.316667/38 (HapMap)
C=0.374172/113 (SGDP_PRJ)
A=0.417292/6994 (TOMMO)
A=0.466988/1358 (KOREAN)
C=0.5/17 (Siberian)
HGVS:: NC_000005.10:g.147234380C>A, NC_000005.10:g.147234380C>T, NC_000005.9:g.146613943C>A, NC_000005.9:g.146613943C>T

Select item 3103610.

rs31036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:147235697 (GRCh38)
5:146615260 (GRCh37)
Canonical SPDI:: NC_000005.10:147235696:C:A
Gene:: STK32A (Varview), STK32A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.333794/72199 (ALFA)
C=0.243028/122 (SGDP_PRJ)
C=0.259259/14 (Siberian)
C=0.272727/12 (PRJEB36033)
C=0.302854/573 (HapMap)
C=0.307907/81500 (TOPMED)
C=0.313628/43928 (GnomAD)
C=0.31382/654 (HGDP_Stanford)
C=0.313865/575 (Korea1K)
C=0.3157/925 (KOREAN)
C=0.3198/1602 (1000Genomes)
C=0.334458/1289 (ALSPAC)
C=0.337648/1252 (TWINSUK)
C=0.340848/1527 (Estonian)
C=0.35514/76 (Vietnamese)
C=0.37037/80 (Qatari)
C=0.378937/6351 (TOMMO)
C=0.385/231 (NorthernSweden)
C=0.388778/388 (GoNL)
C=0.475/19 (GENOME_DK)
HGVS:: NC_000005.10:g.147235697C>A, NC_000005.9:g.146615260C>A

Select item 3103711.

rs31037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:147236222 (GRCh38)
5:146615785 (GRCh37)
Canonical SPDI:: NC_000005.10:147236221:T:G
Gene:: STK32A (Varview), STK32A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.233857/8699 (ALFA)
T=0.175676/91 (SGDP_PRJ)
T=0.185185/10 (Siberian)
T=0.199668/52850 (TOPMED)
T=0.203704/44 (Qatari)
T=0.208734/29234 (GnomAD)
T=0.230949/1157 (1000Genomes)
T=0.246757/951 (ALSPAC)
T=0.253236/939 (TWINSUK)
T=0.266964/1196 (Estonian)
T=0.287575/287 (GoNL)
T=0.3/180 (NorthernSweden)
T=0.311135/570 (Korea1K)
T=0.313993/920 (KOREAN)
T=0.325/13 (GENOME_DK)
T=0.334906/71 (Vietnamese)
T=0.376354/6308 (TOMMO)
HGVS:: NC_000005.10:g.147236222T>G, NC_000005.9:g.146615785T>G

Select item 3103812.

rs31038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:147237056 (GRCh38)
5:146616619 (GRCh37)
Canonical SPDI:: NC_000005.10:147237055:T:C
Gene:: STK32A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.016781/317 (ALFA)
C=0.009152/41 (Estonian)
C=0.012492/63 (1000Genomes)
C=0.0142/1991 (GnomAD)
C=0.015/9 (NorthernSweden)
C=0.015293/4048 (TOPMED)
C=0.016032/16 (GoNL)
C=0.023148/5 (Qatari)
C=0.023352/90 (ALSPAC)
C=0.025081/93 (TWINSUK)
T=0.5/7 (SGDP_PRJ)
HGVS:: NC_000005.10:g.147237056T>C, NC_000005.9:g.146616619T>C

Select item 3103913.

rs31039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:147237842 (GRCh38)
5:146617405 (GRCh37)
Canonical SPDI:: NC_000005.10:147237841:A:G
Gene:: STK32A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.188574/57534 (ALFA)
G=0.043478/2 (PRJEB36033)
G=0.127796/80 (Chileans)
G=0.135061/10629 (PAGE_STUDY)
G=0.146866/38874 (TOPMED)
G=0.15/6 (GENOME_DK)
G=0.150979/21157 (GnomAD)
G=0.152778/33 (Qatari)
G=0.168332/843 (1000Genomes)
G=0.175/105 (NorthernSweden)
G=0.182365/182 (GoNL)
G=0.187632/355 (HapMap)
G=0.189062/847 (Estonian)
G=0.195777/408 (HGDP_Stanford)
G=0.198236/764 (ALSPAC)
G=0.200378/743 (TWINSUK)
G=0.323519/5422 (TOMMO)
G=0.328244/258 (PRJEB37584)
G=0.341157/625 (Korea1K)
G=0.343003/1005 (KOREAN)
G=0.373832/80 (Vietnamese)
A=0.410112/73 (SGDP_PRJ)
A=0.428571/12 (Siberian)
HGVS:: NC_000005.10:g.147237842A>G, NC_000005.9:g.146617405A>G

Select item 3722714.

rs37227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:147380304 (GRCh38)
5:146759867 (GRCh37)
Canonical SPDI:: NC_000005.10:147380303:T:A,NC_000005.10:147380303:T:C
Gene:: STK32A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.137858/23888 (ALFA)
T=0.103636/57 (SGDP_PRJ)
T=0.105301/27872 (TOPMED)
T=0.109524/207 (HapMap)
T=0.111078/15560 (GnomAD)
T=0.12037/26 (Qatari)
T=0.125/5 (GENOME_DK)
T=0.133333/80 (NorthernSweden)
T=0.13351/669 (1000Genomes)
T=0.142857/8 (Siberian)
T=0.143559/263 (Korea1K)
T=0.146758/430 (KOREAN)
T=0.148058/549 (TWINSUK)
T=0.153088/590 (ALSPAC)
T=0.15585/2612 (TOMMO)
T=0.175/784 (Estonian)
T=0.189379/189 (GoNL)
T=0.214286/45 (Vietnamese)
HGVS:: NC_000005.10:g.147380304T>A, NC_000005.10:g.147380304T>C, NC_000005.9:g.146759867T>A, NC_000005.9:g.146759867T>C

Select item 4047915.

rs40479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:147233625 (GRCh38)
5:146613188 (GRCh37)
Canonical SPDI:: NC_000005.10:147233624:T:A,NC_000005.10:147233624:T:G
Gene:: STK32A (Varview), STK32A-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.2271/1101 (ALFA)
T=0.2039/42 (Qatari)
A=0.2498/1251 (1000Genomes)
A=0.2747/150 (SGDP_PRJ)
A=0.2917/14 (Siberian)
A=0.2922/856 (KOREAN)
HGVS:: NC_000005.10:g.147233625T>A, NC_000005.10:g.147233625T>G, NC_000005.9:g.146613188T>A, NC_000005.9:g.146613188T>G

Select item 4097516.

rs40975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:147233336 (GRCh38)
5:146612899 (GRCh37)
Canonical SPDI:: NC_000005.10:147233335:T:A,NC_000005.10:147233335:T:C,NC_000005.10:147233335:T:G
Gene:: STK32A (Varview), STK32A-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.09434/20 (Vietnamese)
T=0.125/10 (HapMap)
T=0.137405/72 (SGDP_PRJ)
T=0.140951/2362 (TOMMO)
T=0.148148/8 (Siberian)
T=0.148472/272 (Korea1K)
T=0.159727/468 (KOREAN)
T=0.175/7 (GENOME_DK)
T=0.178795/801 (Estonian)
T=0.18426/923 (1000Genomes)
T=0.189933/732 (ALSPAC)
T=0.19/114 (NorthernSweden)
T=0.192385/192 (GoNL)
T=0.192495/25784 (GnomAD)
T=0.199074/43 (Qatari)
T=0.204962/760 (TWINSUK)
T=0.212044/56126 (TOPMED)
HGVS:: NC_000005.10:g.147233336T>A, NC_000005.10:g.147233336T>C, NC_000005.10:g.147233336T>G, NC_000005.9:g.146612899T>A, NC_000005.9:g.146612899T>C, NC_000005.9:g.146612899T>G

Select item 72369817.

rs723698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:147377430 (GRCh38)
5:146756993 (GRCh37)
Canonical SPDI:: NC_000005.10:147377429:T:A,NC_000005.10:147377429:T:C,NC_000005.10:147377429:T:G
Gene:: STK32A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.418869/12582 (ALFA)
G=0./0 (KOREAN)
T=0.144105/264 (Korea1K)
T=0.156816/2628 (TOMMO)
T=0.21308/101 (SGDP_PRJ)
T=0.216346/45 (Vietnamese)
T=0.291667/14 (Siberian)
T=0.372841/777 (HGDP_Stanford)
C=0.376563/1687 (Estonian)
C=0.38/228 (NorthernSweden)
C=0.4/16 (GENOME_DK)
C=0.403736/1556 (ALSPAC)
C=0.404261/1499 (TWINSUK)
C=0.426854/426 (GoNL)
T=0.432059/814 (HapMap)
C=0.432474/88690 (GENOGRAPHIC)
T=0.434416/2176 (1000Genomes)
C=0.459991/64350 (GnomAD)
C=0.486599/128798 (TOPMED)
T=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.147377430T>A, NC_000005.10:g.147377430T>C, NC_000005.10:g.147377430T>G, NC_000005.9:g.146756993T>A, NC_000005.9:g.146756993T>C, NC_000005.9:g.146756993T>G

Select item 72953018.

rs729530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:147387907 (GRCh38)
5:146767470 (GRCh37)
Canonical SPDI:: NC_000005.10:147387906:T:A,NC_000005.10:147387906:T:C,NC_000005.10:147387906:T:G
Gene:: STK32A (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.214955/51388 (ALFA)
G=0./0 (KOREAN)
C=0.16/96 (NorthernSweden)
C=0.18192/815 (Estonian)
C=0.189458/26543 (GnomAD)
C=0.2/8 (GENOME_DK)
C=0.20388/53965 (TOPMED)
C=0.206041/764 (TWINSUK)
C=0.209393/807 (ALSPAC)
C=0.221443/221 (GoNL)
C=0.245295/19265 (PAGE_STUDY)
C=0.247619/468 (HapMap)
C=0.270768/1356 (1000Genomes)
C=0.273148/59 (Qatari)
T=0.336364/111 (SGDP_PRJ)
T=0.382353/13 (Siberian)
C=0.396166/248 (Chileans)
T=0.398507/6679 (TOMMO)
T=0.423035/775 (Korea1K)
T=0.434343/344 (PRJEB37584)
T=0.476852/103 (Vietnamese)
HGVS:: NC_000005.10:g.147387907T>A, NC_000005.10:g.147387907T>C, NC_000005.10:g.147387907T>G, NC_000005.9:g.146767470T>A, NC_000005.9:g.146767470T>C, NC_000005.9:g.146767470T>G

Select item 74458519.

rs744585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:147387930 (GRCh38)
5:146767493 (GRCh37)
Canonical SPDI:: NC_000005.10:147387929:C:A,NC_000005.10:147387929:C:G,NC_000005.10:147387929:C:T
Gene:: STK32A (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.265147/2722 (ALFA)
T=0./0 (KOREAN)
C=0.143559/263 (Korea1K)
C=0.156805/2628 (TOMMO)
C=0.205761/100 (SGDP_PRJ)
C=0.214953/46 (Vietnamese)
C=0.291667/14 (Siberian)
C=0.363636/120 (HapMap)
G=0.370312/1659 (Estonian)
G=0.38/228 (NorthernSweden)
G=0.389984/1503 (ALSPAC)
G=0.393474/1459 (TWINSUK)
G=0.4/16 (GENOME_DK)
C=0.403342/2020 (1000Genomes)
G=0.412826/412 (GoNL)
C=0.471669/124846 (TOPMED)
G=0.481481/104 (Qatari)
HGVS:: NC_000005.10:g.147387930C>A, NC_000005.10:g.147387930C>G, NC_000005.10:g.147387930C>T, NC_000005.9:g.146767493C>A, NC_000005.9:g.146767493C>G, NC_000005.9:g.146767493C>T

Select item 88982920.

rs889829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:147345163 (GRCh38)
5:146724726 (GRCh37)
Canonical SPDI:: NC_000005.10:147345162:C:G,NC_000005.10:147345162:C:T
Gene:: STK32A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.426694/87299 (ALFA)
T=0.177778/16 (PRJEB36033)
C=0.255507/116 (SGDP_PRJ)
C=0.343003/1005 (KOREAN)
T=0.35067/1571 (Estonian)
T=0.36/216 (NorthernSweden)
C=0.369565/17 (Siberian)
C=0.383056/30145 (PAGE_STUDY)
T=0.4/16 (GENOME_DK)
C=0.402591/839 (HGDP_Stanford)
T=0.406072/1565 (ALSPAC)
T=0.410194/1521 (TWINSUK)
T=0.427856/427 (GoNL)
C=0.432275/817 (HapMap)
C=0.447064/2239 (1000Genomes)
C=0.457143/96 (Vietnamese)
C=0.458333/99 (Qatari)
C=0.474914/125705 (TOPMED)
T=0.494126/69151 (GnomAD)
HGVS:: NC_000005.10:g.147345163C>G, NC_000005.10:g.147345163C>T, NC_000005.9:g.146724726C>G, NC_000005.9:g.146724726C>T

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