TMEM11 - SNP

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Select item 99061881.

rs9906188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:21198467 (GRCh38)
17:21101780 (GRCh37)
Canonical SPDI:: NC_000017.11:21198466:G:A
Gene:: TMEM11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003203/153 (ALFA)
A=0.000259/1 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.002092/526 (GnomAD_exomes)
A=0.002512/305 (ExAC)
A=0.00463/1 (Qatari)
A=0.007608/1067 (GnomAD)
A=0.008227/107 (GoESP)
A=0.008429/2231 (TOPMED)
A=0.011399/57 (1000Genomes)
A=0.01227/4 (HapMap)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000017.11:g.21198467G>A, NC_000017.10:g.21101780G>A, NM_003876.3:c.436C>T, NM_003876.2:c.436C>T, NR_024547.2:n.737C>T, NR_024547.1:n.1171C>T

Select item 11095132.

rs1109513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:21201504 (GRCh38)
17:21104817 (GRCh37)
Canonical SPDI:: NC_000017.11:21201503:C:A,NC_000017.11:21201503:C:T
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.477936/25171 (ALFA)
C=0.214286/9 (Siberian)
C=0.363636/144 (SGDP_PRJ)
A=0.366339/6140 (TOMMO)
A=0.395563/1159 (KOREAN)
A=0.397926/729 (Korea1K)
A=0.412037/89 (Qatari)
C=0.41942/1879 (Estonian)
A=0.432039/89 (Vietnamese)
A=0.433962/138 (HapMap)
A=0.449407/2251 (1000Genomes)
C=0.468333/281 (NorthernSweden)
C=0.475/19 (GENOME_DK)
C=0.475952/475 (GoNL)
C=0.48028/1851 (ALSPAC)
A=0.482644/127751 (TOPMED)
C=0.486246/1803 (TWINSUK)
HGVS:: NC_000017.11:g.21201504C>A, NC_000017.11:g.21201504C>T, NC_000017.10:g.21104817C>A, NC_000017.10:g.21104817C>T

Select item 11095143.

rs1109514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:21201433 (GRCh38)
17:21104746 (GRCh37)
Canonical SPDI:: NC_000017.11:21201432:A:G
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.464727/20830 (ALFA)
A=0.214286/9 (Siberian)
A=0.336585/138 (SGDP_PRJ)
G=0.366268/6139 (TOMMO)
G=0.395222/1158 (KOREAN)
G=0.398472/730 (Korea1K)
A=0.419866/1881 (Estonian)
G=0.433333/91 (Vietnamese)
G=0.435185/94 (Qatari)
A=0.462641/64803 (GnomAD)
A=0.464245/122881 (TOPMED)
A=0.468333/281 (NorthernSweden)
A=0.475/19 (GENOME_DK)
A=0.476954/476 (GoNL)
A=0.48028/1851 (ALSPAC)
A=0.484358/1796 (TWINSUK)
G=0.487879/161 (HapMap)
A=0.493598/2472 (1000Genomes)
HGVS:: NC_000017.11:g.21201433A>G, NC_000017.10:g.21104746A>G

Select item 11095154.

rs1109515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 17:21201314 (GRCh38)
17:21104627 (GRCh37)
Canonical SPDI:: NC_000017.11:21201313:A:C,NC_000017.11:21201313:A:G,NC_000017.11:21201313:A:T
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.130054/19506 (ALFA)
T=0./0 (KOREAN)
A=0.05/2 (GENOME_DK)
A=0.115385/6 (Siberian)
A=0.120759/541 (Estonian)
A=0.122977/456 (TWINSUK)
A=0.12467/17475 (GnomAD)
A=0.129771/34349 (TOPMED)
A=0.131263/131 (GoNL)
A=0.131552/507 (ALSPAC)
A=0.139925/75 (SGDP_PRJ)
A=0.150106/284 (HapMap)
A=0.152405/763 (1000Genomes)
A=0.157407/34 (Qatari)
A=0.191667/115 (NorthernSweden)
A=0.349057/74 (Vietnamese)
A=0.379255/6356 (TOMMO)
HGVS:: NC_000017.11:g.21201314A>C, NC_000017.11:g.21201314A>G, NC_000017.11:g.21201314A>T, NC_000017.10:g.21104627A>C, NC_000017.10:g.21104627A>G, NC_000017.10:g.21104627A>T

Select item 12245425.

rs1224542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:21199049 (GRCh38)
17:21102362 (GRCh37)
Canonical SPDI:: NC_000017.11:21199048:T:A,NC_000017.11:21199048:T:C
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.023679/207 (ALFA)
T=0./0 (GENOME_DK)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.000683/2 (KOREAN)
T=0.013889/3 (Qatari)
T=0.016129/9 (SGDP_PRJ)
T=0.01827/91 (1000Genomes)
T=0.023046/23 (GoNL)
T=0.023231/6149 (TOPMED)
T=0.027455/123 (Estonian)
T=0.035/21 (NorthernSweden)
HGVS:: NC_000017.11:g.21199049T>A, NC_000017.11:g.21199049T>C, NC_000017.10:g.21102362T>A, NC_000017.10:g.21102362T>C

Select item 20454676.

rs2045467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:21207876 (GRCh38)
17:21111189 (GRCh37)
Canonical SPDI:: NC_000017.11:21207875:G:A
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.311223/5879 (ALFA)
A=0.252813/4237 (TOMMO)
A=0.25529/748 (KOREAN)
A=0.261667/157 (NorthernSweden)
A=0.2631/482 (Korea1K)
A=0.284152/1273 (Estonian)
A=0.303759/80402 (TOPMED)
A=0.306683/1536 (1000Genomes)
A=0.308236/43063 (GnomAD)
A=0.309816/101 (HapMap)
A=0.332665/332 (GoNL)
A=0.339647/1309 (ALSPAC)
A=0.349245/1295 (TWINSUK)
G=0.4/8 (Siberian)
A=0.407407/88 (Qatari)
G=0.421769/124 (SGDP_PRJ)
A=0.425/17 (GENOME_DK)
HGVS:: NC_000017.11:g.21207876G>A, NC_000017.10:g.21111189G>A

Select item 23640947.

rs2364094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:21199351 (GRCh38)
17:21102664 (GRCh37)
Canonical SPDI:: NC_000017.11:21199350:T:A,NC_000017.11:21199350:T:C,NC_000017.11:21199350:T:G
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.0137/40 (KOREAN)
A=0.01462/245 (TOMMO)
HGVS:: NC_000017.11:g.21199351T>A, NC_000017.11:g.21199351T>C, NC_000017.11:g.21199351T>G, NC_000017.10:g.21102664T>A, NC_000017.10:g.21102664T>C, NC_000017.10:g.21102664T>G

Select item 23640958.

rs2364095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:21199349 (GRCh38)
17:21102662 (GRCh37)
Canonical SPDI:: NC_000017.11:21199348:T:A,NC_000017.11:21199348:T:C
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.009596/28 (KOREAN)
A=0.011019/184 (TOMMO)
HGVS:: NC_000017.11:g.21199349T>A, NC_000017.11:g.21199349T>C, NC_000017.10:g.21102662T>A, NC_000017.10:g.21102662T>C

Select item 23640969.

rs2364096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:21199347 (GRCh38)
17:21102660 (GRCh37)
Canonical SPDI:: NC_000017.11:21199346:G:A,NC_000017.11:21199346:G:C,NC_000017.11:21199346:G:T
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.007534/22 (KOREAN)
A=0.020265/339 (TOMMO)
HGVS:: NC_000017.11:g.21199347G>A, NC_000017.11:g.21199347G>C, NC_000017.11:g.21199347G>T, NC_000017.10:g.21102660G>A, NC_000017.10:g.21102660G>C, NC_000017.10:g.21102660G>T

Select item 260829610.

rs2608296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:21209816 (GRCh38)
17:21113129 (GRCh37)
Canonical SPDI:: NC_000017.11:21209815:G:C
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.21209816G>C, NC_000017.10:g.21113129G>C

Select item 374422311.

rs3744223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:21214276 (GRCh38)
17:21117589 (GRCh37)
Canonical SPDI:: NC_000017.11:21214275:C:A,NC_000017.11:21214275:C:T
Gene:: TMEM11 (Varview), TMEM11-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.227977/4912 (ALFA)
A=0.21028/45 (Vietnamese)
A=0.260493/4366 (TOMMO)
A=0.263661/772 (KOREAN)
A=0.271667/163 (NorthernSweden)
A=0.277652/492 (Korea1K)
A=0.291295/1305 (Estonian)
A=0.306264/81065 (TOPMED)
A=0.30762/1541 (1000Genomes)
A=0.340944/1314 (ALSPAC)
A=0.350054/1298 (TWINSUK)
A=0.355076/4393 (ExAC)
A=0.4/16 (GENOME_DK)
C=0.4/8 (Siberian)
A=0.407407/88 (Qatari)
C=0.426174/127 (SGDP_PRJ)
HGVS:: NC_000017.11:g.21214276C>A, NC_000017.11:g.21214276C>T, NC_000017.10:g.21117589C>A, NC_000017.10:g.21117589C>T, NM_003876.2:c.-124G>T, NM_003876.2:c.-124G>A, NR_024547.1:n.320G>T, NR_024547.1:n.320G>A

Select item 378554312.

rs3785543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:21202883 (GRCh38)
17:21106196 (GRCh37)
Canonical SPDI:: NC_000017.11:21202882:G:A
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.359979/11749 (ALFA)
A=0.310345/90 (HapMap)
A=0.314022/1573 (1000Genomes)
A=0.314815/68 (Qatari)
A=0.327058/5481 (TOMMO)
A=0.330946/87598 (TOPMED)
A=0.332146/46511 (GnomAD)
A=0.340614/998 (KOREAN)
A=0.347162/636 (Korea1K)
A=0.371629/1378 (TWINSUK)
A=0.372081/1434 (ALSPAC)
A=0.376667/226 (NorthernSweden)
A=0.391964/1756 (Estonian)
G=0.4/12 (Siberian)
G=0.406832/131 (SGDP_PRJ)
A=0.424528/90 (Vietnamese)
HGVS:: NC_000017.11:g.21202883G>A, NC_000017.10:g.21106196G>A

Select item 498598813.

rs4985988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:21214524 (GRCh38)
17:21117837 (GRCh37)
Canonical SPDI:: NC_000017.11:21214523:T:A,NC_000017.11:21214523:T:C,NC_000017.11:21214523:T:G
Gene:: TMEM11 (Varview), TMEM11-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.12972/481 (TWINSUK)
T=0.130357/584 (Estonian)
T=0.134615/7 (Siberian)
T=0.135444/522 (ALSPAC)
T=0.146711/38833 (TOPMED)
T=0.14794/79 (SGDP_PRJ)
T=0.148148/32 (Qatari)
T=0.17411/872 (1000Genomes)
T=0.191667/115 (NorthernSweden)
T=0.333333/70 (Vietnamese)
T=0.349863/1023 (KOREAN)
T=0.381645/6396 (TOMMO)
HGVS:: NC_000017.11:g.21214524T>A, NC_000017.11:g.21214524T>C, NC_000017.11:g.21214524T>G, NC_000017.10:g.21117837T>A, NC_000017.10:g.21117837T>C, NC_000017.10:g.21117837T>G, NM_003876.2:c.-372A>T, NM_003876.2:c.-372A>G, NM_003876.2:c.-372A>C, NR_024547.1:n.72A>T, NR_024547.1:n.72A>G, NR_024547.1:n.72A>C

Select item 498598914.

rs4985989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:21214602 (GRCh38)
17:21117915 (GRCh37)
Canonical SPDI:: NC_000017.11:21214601:T:C
Gene:: TMEM11 (Varview), TMEM11-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.135998/2569 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.12972/481 (TWINSUK)
T=0.13058/585 (Estonian)
T=0.134615/7 (Siberian)
T=0.135184/521 (ALSPAC)
T=0.140948/19755 (GnomAD)
T=0.146979/38904 (TOPMED)
T=0.147727/78 (SGDP_PRJ)
T=0.148148/32 (Qatari)
T=0.174422/874 (1000Genomes)
T=0.195/117 (NorthernSweden)
T=0.349057/74 (Vietnamese)
T=0.351776/1030 (KOREAN)
T=0.382388/6409 (TOMMO)
HGVS:: NC_000017.11:g.21214602T>C, NC_000017.10:g.21117915T>C

Select item 720971615.

rs7209716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:21215729 (GRCh38)
17:21119042 (GRCh37)
Canonical SPDI:: NC_000017.11:21215728:T:A,NC_000017.11:21215728:T:C,NC_000017.11:21215728:T:G
Gene:: TMEM11 (Varview), TMEM11-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.075/3 (GENOME_DK)
T=0.083333/18 (Qatari)
T=0.087696/392 (Estonian)
T=0.097194/97 (GoNL)
T=0.104908/389 (TWINSUK)
T=0.105864/408 (ALSPAC)
T=0.106539/14800 (GnomAD)
T=0.123193/32608 (TOPMED)
T=0.123333/74 (NorthernSweden)
T=0.142857/4 (Siberian)
T=0.144231/75 (SGDP_PRJ)
T=0.154591/774 (1000Genomes)
T=0.289301/530 (Korea1K)
T=0.291468/854 (KOREAN)
T=0.359049/6018 (TOMMO)
HGVS:: NC_000017.11:g.21215729T>A, NC_000017.11:g.21215729T>C, NC_000017.11:g.21215729T>G, NC_000017.10:g.21119042T>A, NC_000017.10:g.21119042T>C, NC_000017.10:g.21119042T>G

Select item 720972216.

rs7209722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:21215737 (GRCh38)
17:21119050 (GRCh37)
Canonical SPDI:: NC_000017.11:21215736:T:C
Gene:: TMEM11 (Varview), TMEM11-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.085451/1614 (ALFA)
C=0.011667/7 (NorthernSweden)
C=0.026052/26 (GoNL)
C=0.026725/103 (ALSPAC)
C=0.029031/130 (Estonian)
C=0.029666/110 (TWINSUK)
C=0.048977/821 (TOMMO)
C=0.056769/104 (Korea1K)
C=0.065529/192 (KOREAN)
C=0.074074/16 (Qatari)
C=0.127343/17756 (GnomAD)
C=0.131505/34808 (TOPMED)
C=0.138039/691 (1000Genomes)
T=0.294872/23 (SGDP_PRJ)
T=0.5/7 (Siberian)
HGVS:: NC_000017.11:g.21215737T>C, NC_000017.10:g.21119050T>C

Select item 721056117.

rs7210561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:21209570 (GRCh38)
17:21112883 (GRCh37)
Canonical SPDI:: NC_000017.11:21209569:C:G
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.043197/816 (ALFA)
G=0.009259/2 (Vietnamese)
G=0.018333/11 (NorthernSweden)
G=0.030357/136 (Estonian)
G=0.032064/32 (GoNL)
G=0.032902/122 (TWINSUK)
G=0.03451/133 (ALSPAC)
G=0.036238/607 (TOMMO)
G=0.046296/10 (Qatari)
G=0.05/2 (GENOME_DK)
G=0.054986/161 (KOREAN)
G=0.057287/8031 (GnomAD)
G=0.058601/15511 (TOPMED)
G=0.06168/309 (1000Genomes)
G=0.070122/23 (HapMap)
C=0.5/27 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000017.11:g.21209570C>G, NC_000017.10:g.21112883C>G

Select item 721150018.

rs7211500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:21210119 (GRCh38)
17:21113432 (GRCh37)
Canonical SPDI:: NC_000017.11:21210118:C:A
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.010301/126 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (HapMap)
A=0.000809/3 (TWINSUK)
A=0.00463/1 (Qatari)
A=0.009213/46 (1000Genomes)
A=0.009812/1376 (GnomAD)
A=0.010288/2723 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.21210119C>A, NC_000017.10:g.21113432C>A

Select item 721254819.

rs7212548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:21198290 (GRCh38)
17:21101603 (GRCh37)
Canonical SPDI:: NC_000017.11:21198289:G:A
Gene:: TMEM11 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.004605/159 (ALFA)
A=0.000106/2 (TOMMO)
A=0.000259/1 (ALSPAC)
A=0.000809/3 (TWINSUK)
A=0.002592/610 (GnomAD_exomes)
A=0.003247/1 (HapMap)
A=0.003382/385 (ExAC)
A=0.00463/1 (Qatari)
A=0.004717/1 (Vietnamese)
A=0.009525/48 (1000Genomes)
A=0.00989/1387 (GnomAD)
A=0.010397/2752 (TOPMED)
A=0.011533/150 (GoESP)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.21198290G>A, NC_000017.10:g.21101603G>A, NM_003876.3:c.*34C>T, NM_003876.2:c.*34C>T, NR_024547.2:n.914C>T, NR_024547.1:n.1348C>T

Select item 721916020.

rs7219160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:21199207 (GRCh38)
17:21102520 (GRCh37)
Canonical SPDI:: NC_000017.11:21199206:C:T
Gene:: TMEM11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.019834/286 (ALFA)
T=0./0 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.009259/2 (Qatari)
T=0.026905/3749 (GnomAD)
T=0.027607/9 (HapMap)
T=0.028214/7468 (TOPMED)
T=0.031855/160 (1000Genomes)
C=0.5/6 (SGDP_PRJ)
HGVS:: NC_000017.11:g.21199207C>T, NC_000017.10:g.21102520C>T

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