SLC17A9 - SNP

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Select item 454565941.

rs45456594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:62966741 (GRCh38)
20:61598093 (GRCh37)
Canonical SPDI:: NC_000020.11:62966740:C:G,NC_000020.11:62966740:C:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.010669/521 (ALFA)
T=0.003123/16 (1000Genomes)
T=0.005357/24 (Estonian)
T=0.007894/951 (ExAC)
T=0.008237/2005 (GnomAD_exomes)
T=0.009265/1299 (GnomAD)
T=0.009793/120 (GoESP)
T=0.011236/6 (MGP)
T=0.014293/53 (TWINSUK)
T=0.01503/15 (GoNL)
T=0.015828/61 (ALSPAC)
T=0.021667/13 (NorthernSweden)
T=0.027778/6 (Qatari)
C=0.25/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.62966741C>G, NC_000020.11:g.62966741C>T, NC_000020.10:g.61598093C>G, NC_000020.10:g.61598093C>T, NG_041785.1:g.19095C>G, NG_041785.1:g.19095C>T

Select item 579957562.

rs57995756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62962680 (GRCh38)
20:61594032 (GRCh37)
Canonical SPDI:: NC_000020.11:62962679:G:C
Gene:: SLC17A9 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003794/171 (ALFA)
C=0.001873/1 (MGP)
C=0.003155/787 (GnomAD_exomes)
C=0.003872/467 (ExAC)
C=0.00463/1 (Qatari)
C=0.012852/158 (GoESP)
C=0.013552/1901 (GnomAD)
C=0.014625/3871 (TOPMED)
C=0.017177/86 (1000Genomes)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000020.11:g.62962680G>C, NC_000020.10:g.61594032G>C, NG_041785.1:g.15034G>C, NM_022082.4:c.554G>C, NM_022082.3:c.554G>C, NM_001302643.2:c.536G>C, NM_001302643.1:c.536G>C, XR_936601.4:n.676G>C, XR_936601.3:n.695G>C, XR_936601.2:n.738G>C, XR_936601.1:n.738G>C, XM_011528978.3:c.194G>C, XM_011528978.2:c.194G>C, XM_011528978.1:c.194G>C, NP_071365.4:p.Ser185Thr, NP_001289572.2:p.Ser179Thr, XP_011527280.1:p.Ser65Thr

Select item 1158040613.

rs115804061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62963266 (GRCh38)
20:61594618 (GRCh37)
Canonical SPDI:: NC_000020.11:62963265:C:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002036/91 (ALFA)
T=0.001881/467 (GnomAD_exomes)
T=0.002279/268 (ExAC)
T=0.00463/1 (Qatari)
T=0.007264/90 (GoESP)
T=0.007808/39 (1000Genomes)
T=0.007897/1108 (GnomAD)
T=0.008686/2299 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.62963266C>T, NC_000020.10:g.61594618C>T, NG_041785.1:g.15620C>T

Select item 1445345374.

rs144534537 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 20:62960579 (GRCh38)
20:61591931 (GRCh37)
Canonical SPDI:: NC_000020.11:62960578:T:
Gene:: SLC17A9 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000521/12 (ALFA)
-=0.000252/27 (ExAC)
-=0.000259/64 (GnomAD_exomes)
-=0.000681/8 (GoESP)
-=0.001212/170 (GnomAD)
-=0.001311/347 (TOPMED)
-=0.002811/14 (1000Genomes)
HGVS:: NC_000020.11:g.62960579del, NC_000020.10:g.61591931del, NG_041785.1:g.12933del, NM_022082.4:c.473del, NM_022082.3:c.473del, NM_001302643.2:c.455del, NM_001302643.1:c.455del, XR_936601.4:n.595del, XR_936601.3:n.614del, XR_936601.2:n.657del, XR_936601.1:n.657del, XM_011528978.3:c.113del, XM_011528978.2:c.113del, XM_011528978.1:c.113del, NP_071365.4:p.Ile158fs, NP_001289572.2:p.Ile152fs, XP_011527280.1:p.Ile38fs

Select item 1872265285.

rs187226528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62956955 (GRCh38)
20:61588307 (GRCh37)
Canonical SPDI:: NC_000020.11:62956954:G:A
Gene:: SLC17A9 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000352/47 (ALFA)
A=0.000445/110 (GnomAD_exomes)
A=0.000558/66 (ExAC)
A=0.001718/9 (1000Genomes)
A=0.001939/272 (GnomAD)
A=0.002009/25 (GoESP)
A=0.002048/542 (TOPMED)
A=0.003026/236 (PAGE_STUDY)
A=0.00463/1 (Qatari)
HGVS:: NC_000020.11:g.62956955G>A, NC_000020.10:g.61588307G>A, NG_041785.1:g.9309G>A, NM_022082.4:c.250G>A, NM_022082.3:c.250G>A, NM_001302643.2:c.232G>A, NM_001302643.1:c.232G>A, XR_936601.4:n.372G>A, XR_936601.3:n.391G>A, XR_936601.2:n.434G>A, XR_936601.1:n.434G>A, NP_071365.4:p.Gly84Arg, NP_001289572.2:p.Gly78Arg

Select item 2007347586.

rs200734758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 20:62964221 (GRCh38)
20:61595573 (GRCh37)
Canonical SPDI:: NC_000020.11:62964220:C:A,NC_000020.11:62964220:C:G,NC_000020.11:62964220:C:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00007/1 (TOMMO)
T=0.00031/2 (1000Genomes)
T=0.0004/5 (GoESP)
G=0.00055/1 (Korea1K)
HGVS:: NC_000020.11:g.62964221C>A, NC_000020.11:g.62964221C>G, NC_000020.11:g.62964221C>T, NC_000020.10:g.61595573C>A, NC_000020.10:g.61595573C>G, NC_000020.10:g.61595573C>T, NG_041785.1:g.16575C>A, NG_041785.1:g.16575C>G, NG_041785.1:g.16575C>T

Select item 2009431557.

rs200943155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:62956963 (GRCh38)
20:61588315 (GRCh37)
Canonical SPDI:: NC_000020.11:62956962:G:A,NC_000020.11:62956962:G:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: intron_variant,splice_donor_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000098/5 (ALFA)
T=0.000915/226 (GnomAD_exomes)
T=0.001203/142 (ExAC)
T=0.004372/22 (1000Genomes)
HGVS:: NC_000020.11:g.62956963G>A, NC_000020.11:g.62956963G>T, NC_000020.10:g.61588315G>A, NC_000020.10:g.61588315G>T, NG_041785.1:g.9317G>A, NG_041785.1:g.9317G>T

Select item 2017879248.

rs201787924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62956964 (GRCh38)
20:61588316 (GRCh37)
Canonical SPDI:: NC_000020.11:62956963:T:C
Gene:: SLC17A9 (Varview)
Functional Consequence:: intron_variant,splice_donor_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000482/50 (ALFA)
C=0.000912/225 (GnomAD_exomes)
C=0.001196/141 (ExAC)
C=0.004243/595 (GnomAD)
C=0.004372/22 (1000Genomes)
C=0.004507/1193 (TOPMED)
HGVS:: NC_000020.11:g.62956964T>C, NC_000020.10:g.61588316T>C, NG_041785.1:g.9318T>C

Select item 3676119729.

rs367611972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62956891 (GRCh38)
20:61588243 (GRCh37)
Canonical SPDI:: NC_000020.11:62956890:C:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/2 (ALFA)
T=0./0 (TWINSUK)
T=0.00003/8 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000036/9 (GnomAD_exomes)
T=0.000042/5 (ExAC)
T=0.000057/8 (GnomAD)
T=0.000079/1 (GoESP)
T=0.000519/2 (ALSPAC)
HGVS:: NC_000020.11:g.62956891C>T, NC_000020.10:g.61588243C>T, NG_041785.1:g.9245C>T, NM_022082.4:c.186C>T, NM_022082.3:c.186C>T, NM_001302643.2:c.168C>T, NM_001302643.1:c.168C>T, XR_936601.4:n.308C>T, XR_936601.3:n.327C>T, XR_936601.2:n.370C>T, XR_936601.1:n.370C>T, XM_011528978.3:c.-149C>T, XM_011528978.2:c.-149C>T, XM_011528978.1:c.-149C>T

Select item 36885498910.

rs368854989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:62965152 (GRCh38)
20:61596504 (GRCh37)
Canonical SPDI:: NC_000020.11:62965151:C:A,NC_000020.11:62965151:C:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000082/1 (GoESP)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.62965152C>A, NC_000020.11:g.62965152C>T, NC_000020.10:g.61596504C>A, NC_000020.10:g.61596504C>T, NG_041785.1:g.17506C>A, NG_041785.1:g.17506C>T, NM_022082.4:c.931C>A, NM_022082.4:c.931C>T, NM_022082.3:c.931C>A, NM_022082.3:c.931C>T, NM_001302643.2:c.913C>A, NM_001302643.2:c.913C>T, NM_001302643.1:c.913C>A, NM_001302643.1:c.913C>T, XR_936601.4:n.1033C>A, XR_936601.4:n.1033C>T, XR_936601.3:n.1052C>A, XR_936601.3:n.1052C>T, XR_936601.2:n.1095C>A, XR_936601.2:n.1095C>T, XR_936601.1:n.1095C>A, XR_936601.1:n.1095C>T, XM_011528978.3:c.571C>A, XM_011528978.3:c.571C>T, XM_011528978.2:c.571C>A, XM_011528978.2:c.571C>T, XM_011528978.1:c.571C>A, XM_011528978.1:c.571C>T, NP_071365.4:p.Arg311Trp, NP_001289572.2:p.Arg305Trp, XP_011527280.1:p.Arg191Trp

Select item 54872808811.

rs548728088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:62952855 (GRCh38)
20:61584207 (GRCh37)
Canonical SPDI:: NC_000020.11:62952854:C:A,NC_000020.11:62952854:C:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: pathogenic,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000105/14 (GnomAD)
T=0.000196/52 (TOPMED)
T=0.0002/1 (1000Genomes)
T=0.000231/30 (GnomAD_exomes)
T=0.001132/19 (TOMMO)
T=0.003121/9 (KOREAN)
T=0.003356/6 (Korea1K)
HGVS:: NC_000020.11:g.62952855C>A, NC_000020.11:g.62952855C>T, NC_000020.10:g.61584207C>A, NC_000020.10:g.61584207C>T, NG_041785.1:g.5209C>A, NG_041785.1:g.5209C>T, NM_022082.4:c.25C>A, NM_022082.4:c.25C>T, NM_022082.3:c.25C>A, NM_022082.3:c.25C>T, NM_001302643.2:c.-56C>A, NM_001302643.2:c.-56C>T, NM_001302643.1:c.-56C>A, NM_001302643.1:c.-56C>T, XR_936601.4:n.147C>A, XR_936601.4:n.147C>T, XR_936601.3:n.166C>A, XR_936601.3:n.166C>T, XR_936601.2:n.209C>A, XR_936601.2:n.209C>T, XR_936601.1:n.209C>A, XR_936601.1:n.209C>T, NP_071365.4:p.Arg9Ser, NP_071365.4:p.Arg9Cys

Select item 60623125112.

rs606231251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62965153 (GRCh38)
20:61596505 (GRCh37)
Canonical SPDI:: NC_000020.11:62965152:G:A
Gene:: SLC17A9 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000017/2 (ExAC)
HGVS:: NC_000020.11:g.62965153G>A, NC_000020.10:g.61596505G>A, NG_041785.1:g.17507G>A, NM_022082.4:c.932G>A, NM_022082.3:c.932G>A, NM_001302643.2:c.914G>A, NM_001302643.1:c.914G>A, XR_936601.4:n.1034G>A, XR_936601.3:n.1053G>A, XR_936601.2:n.1096G>A, XR_936601.1:n.1096G>A, XM_011528978.3:c.572G>A, XM_011528978.2:c.572G>A, XM_011528978.1:c.572G>A, NP_071365.4:p.Arg311Gln, NP_001289572.2:p.Arg305Gln, XP_011527280.1:p.Arg191Gln

LitVar

Select item 143044912713.

rs1430449127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62965676 (GRCh38)
20:61597028 (GRCh37)
Canonical SPDI:: NC_000020.11:62965675:T:C
Gene:: SLC17A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62965676T>C, NC_000020.10:g.61597028T>C, NG_041785.1:g.18030T>C, NM_022082.4:c.1012T>C, NM_022082.3:c.1012T>C, NM_001302643.2:c.994T>C, NM_001302643.1:c.994T>C, XM_011528978.3:c.652T>C, XM_011528978.2:c.652T>C, XM_011528978.1:c.652T>C, NP_071365.4:p.Ser338Pro, NP_001289572.2:p.Ser332Pro, XP_011527280.1:p.Ser218Pro

Select item 73505514.

rs735055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:62954455 (GRCh38)
20:61585807 (GRCh37)
Canonical SPDI:: NC_000020.11:62954454:A:C,NC_000020.11:62954454:A:G,NC_000020.11:62954454:A:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
A=0.031659/58 (Korea1K)
A=0.037759/633 (TOMMO)
A=0.042056/9 (Vietnamese)
A=0.075/3 (GENOME_DK)
A=0.092593/5 (Siberian)
A=0.094643/424 (Estonian)
A=0.128205/10 (PRJEB36033)
A=0.162891/604 (TWINSUK)
A=0.163386/83 (SGDP_PRJ)
A=0.17/102 (NorthernSweden)
A=0.178256/687 (ALSPAC)
A=0.184369/184 (GoNL)
A=0.238289/1193 (1000Genomes)
A=0.259375/36368 (GnomAD)
A=0.270248/71532 (TOPMED)
A=0.425926/92 (Qatari)
HGVS:: NC_000020.11:g.62954455A>C, NC_000020.11:g.62954455A>G, NC_000020.11:g.62954455A>T, NC_000020.10:g.61585807A>C, NC_000020.10:g.61585807A>G, NC_000020.10:g.61585807A>T, NG_041785.1:g.6809A>C, NG_041785.1:g.6809A>G, NG_041785.1:g.6809A>T

Select item 74803015.

rs748030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:62968606 (GRCh38)
20:61599958 (GRCh37)
Canonical SPDI:: NC_000020.11:62968605:T:C,NC_000020.11:62968605:T:G
Gene:: SLC17A9 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.404182/7635 (ALFA)
T=0.238318/51 (Vietnamese)
T=0.256356/121 (SGDP_PRJ)
T=0.28/14 (Siberian)
T=0.283276/830 (KOREAN)
T=0.290113/4862 (TOMMO)
T=0.290393/532 (Korea1K)
T=0.324074/70 (Qatari)
T=0.356667/214 (NorthernSweden)
T=0.372267/1864 (1000Genomes)
T=0.385714/1728 (Estonian)
T=0.394013/1461 (TWINSUK)
T=0.406331/1566 (ALSPAC)
T=0.409804/108471 (TOPMED)
T=0.41484/58105 (GnomAD)
T=0.41984/419 (GoNL)
C=0.475/19 (GENOME_DK)
HGVS:: NC_000020.11:g.62968606T>C, NC_000020.11:g.62968606T>G, NC_000020.10:g.61599958T>C, NC_000020.10:g.61599958T>G, NG_041785.1:g.20960T>C, NG_041785.1:g.20960T>G, NM_022082.4:c.*1106T>C, NM_022082.4:c.*1106T>G, NM_001302643.2:c.*1106T>C, NM_001302643.2:c.*1106T>G, XM_011528978.3:c.*1106T>C, XM_011528978.3:c.*1106T>G, XM_011528978.1:c.*1106T>C, XM_011528978.1:c.*1106T>G

Select item 75243016.

rs752430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 20:62968036 (GRCh38)
20:61599388 (GRCh37)
Canonical SPDI:: NC_000020.11:62968035:C:A,NC_000020.11:62968035:C:G,NC_000020.11:62968035:C:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.479102/28061 (ALFA)
G=0./0 (KOREAN)
C=0.257009/55 (Vietnamese)
C=0.270833/13 (Siberian)
C=0.298122/127 (SGDP_PRJ)
C=0.301083/5046 (TOMMO)
C=0.305464/559 (Korea1K)
T=0.425/17 (GENOME_DK)
C=0.43817/1963 (Estonian)
C=0.443333/266 (NorthernSweden)
C=0.452217/2265 (1000Genomes)
C=0.467593/101 (Qatari)
C=0.475728/1764 (TWINSUK)
T=0.491834/68842 (GnomAD)
T=0.49533/1909 (ALSPAC)
T=0.498761/132017 (TOPMED)
T=0.498998/498 (GoNL)
HGVS:: NC_000020.11:g.62968036C>A, NC_000020.11:g.62968036C>G, NC_000020.11:g.62968036C>T, NC_000020.10:g.61599388C>A, NC_000020.10:g.61599388C>G, NC_000020.10:g.61599388C>T, NG_041785.1:g.20390C>A, NG_041785.1:g.20390C>G, NG_041785.1:g.20390C>T, NM_022082.4:c.*536C>A, NM_022082.4:c.*536C>G, NM_022082.4:c.*536C>T, NM_022082.3:c.*536C>A, NM_022082.3:c.*536C>G, NM_022082.3:c.*536C>T, NM_001302643.2:c.*536C>A, NM_001302643.2:c.*536C>G, NM_001302643.2:c.*536C>T, NM_001302643.1:c.*536C>A, NM_001302643.1:c.*536C>G, NM_001302643.1:c.*536C>T, XM_011528978.3:c.*536C>A, XM_011528978.3:c.*536C>G, XM_011528978.3:c.*536C>T, XM_011528978.2:c.*536C>A, XM_011528978.2:c.*536C>G, XM_011528978.2:c.*536C>T, XM_011528978.1:c.*536C>A, XM_011528978.1:c.*536C>G, XM_011528978.1:c.*536C>T

Select item 91093317.

rs910933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62959988 (GRCh38)
20:61591340 (GRCh37)
Canonical SPDI:: NC_000020.11:62959987:G:C
Gene:: SLC17A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.262255/4954 (ALFA)
G=0.002229/37 (TOMMO)
G=0.005459/10 (Korea1K)
G=0.005464/16 (KOREAN)
G=0.013889/3 (Vietnamese)
G=0.053571/3 (Siberian)
G=0.132231/64 (SGDP_PRJ)
G=0.15625/10 (PRJEB36033)
G=0.17433/781 (Estonian)
G=0.177355/177 (GoNL)
G=0.187972/697 (TWINSUK)
G=0.191667/115 (NorthernSweden)
G=0.2/8 (GENOME_DK)
G=0.203944/786 (ALSPAC)
G=0.302311/1514 (1000Genomes)
G=0.330759/46379 (GnomAD)
G=0.333375/88241 (TOPMED)
G=0.356481/77 (Qatari)
G=0.356707/117 (HapMap)
G=0.380193/29906 (PAGE_STUDY)
HGVS:: NC_000020.11:g.62959988G>C, NC_000020.10:g.61591340G>C, NG_041785.1:g.12342G>C

Select item 91093418.

rs910934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:62960016 (GRCh38)
20:61591368 (GRCh37)
Canonical SPDI:: NC_000020.11:62960015:T:A,NC_000020.11:62960015:T:C,NC_000020.11:62960015:T:G
Gene:: SLC17A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.210669/38107 (ALFA)
G=0./0 (KOREAN)
T=0.002229/37 (TOMMO)
T=0.005459/10 (Korea1K)
T=0.014019/3 (Vietnamese)
T=0.053571/3 (Siberian)
T=0.130165/63 (SGDP_PRJ)
T=0.172545/773 (Estonian)
T=0.173347/173 (GoNL)
T=0.188781/700 (TWINSUK)
T=0.191667/115 (NorthernSweden)
T=0.195122/16 (PRJEB36033)
T=0.197697/40543 (GENOGRAPHIC)
T=0.2/8 (GENOME_DK)
T=0.205501/792 (ALSPAC)
T=0.221902/462 (HGDP_Stanford)
T=0.301686/1511 (1000Genomes)
T=0.329254/46164 (GnomAD)
T=0.332283/87952 (TOPMED)
T=0.347059/649 (HapMap)
T=0.361111/78 (Qatari)
HGVS:: NC_000020.11:g.62960016T>A, NC_000020.11:g.62960016T>C, NC_000020.11:g.62960016T>G, NC_000020.10:g.61591368T>A, NC_000020.10:g.61591368T>C, NC_000020.10:g.61591368T>G, NG_041785.1:g.12370T>A, NG_041785.1:g.12370T>C, NG_041785.1:g.12370T>G

Select item 91093719.

rs910937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62967691 (GRCh38)
20:61599043 (GRCh37)
Canonical SPDI:: NC_000020.11:62967690:G:A
Gene:: SLC17A9 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.015881/229 (ALFA)
A=0.018519/4 (Qatari)
A=0.022114/3101 (GnomAD)
A=0.022174/111 (1000Genomes)
A=0.023303/6168 (TOPMED)
A=0.042683/14 (HapMap)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000020.11:g.62967691G>A, NC_000020.10:g.61599043G>A, NG_041785.1:g.20045G>A, NM_022082.4:c.*191G>A, NM_022082.3:c.*191G>A, NM_001302643.2:c.*191G>A, NM_001302643.1:c.*191G>A, XM_011528978.3:c.*191G>A, XM_011528978.2:c.*191G>A, XM_011528978.1:c.*191G>A

Select item 91093820.

rs910938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:62969425 (GRCh38)
20:61600777 (GRCh37)
Canonical SPDI:: NC_000020.11:62969424:G:A,NC_000020.11:62969424:G:T
Gene:: SLC17A9 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.482359/17964 (ALFA)
G=0.240566/51 (Vietnamese)
G=0.270833/13 (Siberian)
G=0.292271/121 (SGDP_PRJ)
G=0.302389/886 (KOREAN)
G=0.306223/561 (Korea1K)
A=0.425/17 (GENOME_DK)
G=0.43125/1932 (Estonian)
G=0.443333/266 (NorthernSweden)
G=0.467593/101 (Qatari)
G=0.469082/2349 (1000Genomes)
G=0.47384/1757 (TWINSUK)
A=0.477143/66737 (GnomAD)
A=0.483444/146 (HapMap)
A=0.483524/127984 (TOPMED)
G=0.499222/1924 (ALSPAC)
G=0.5/499 (GoNL)
HGVS:: NC_000020.11:g.62969425G>A, NC_000020.11:g.62969425G>T, NC_000020.10:g.61600777G>A, NC_000020.10:g.61600777G>T, NG_041785.1:g.21779G>A, NG_041785.1:g.21779G>T, NM_022082.4:c.*1925G>A, NM_022082.4:c.*1925G>T, NM_001302643.2:c.*1925G>A, NM_001302643.2:c.*1925G>T, XM_011528978.3:c.*1925G>A, XM_011528978.3:c.*1925G>T, XM_011528978.1:c.*1925G>A, XM_011528978.1:c.*1925G>T

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