SNP Links for PMC (Select 3080658) - SNP

Links from PMC

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Select item 132921361.

rs13292136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:79337213 (GRCh38)
9:81952128 (GRCh37)
Canonical SPDI:: NC_000009.12:79337212:C:A,NC_000009.12:79337212:C:G,NC_000009.12:79337212:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (PRJEB36033)
T=0.037037/8 (Qatari)
T=0.052009/233 (Estonian)
T=0.064725/240 (TWINSUK)
T=0.067134/67 (GoNL)
T=0.073171/282 (ALSPAC)
T=0.076928/20362 (TOPMED)
T=0.092282/7260 (PAGE_STUDY)
T=0.093939/31 (HapMap)
T=0.099057/21 (Vietnamese)
T=0.100718/504 (1000Genomes)
T=0.103581/1736 (TOMMO)
T=0.104096/305 (KOREAN)
T=0.107533/197 (Korea1K)
T=0.112944/89 (PRJEB37584)
T=0.125/5 (GENOME_DK)
T=0.126667/76 (NorthernSweden)
C=0.395833/38 (SGDP_PRJ)
C=0.461538/12 (Siberian)
HGVS:: NC_000009.12:g.79337213C>A, NC_000009.12:g.79337213C>G, NC_000009.12:g.79337213C>T, NC_000009.11:g.81952128C>A, NC_000009.11:g.81952128C>G, NC_000009.11:g.81952128C>T

PubMed

Select item 130813892.

rs13081389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:12248301 (GRCh38)
3:12289800 (GRCh37)
Canonical SPDI:: NC_000003.12:12248300:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.056958/10156 (ALFA)
G=0./0 (PRJEB36033)
G=0.018519/4 (Qatari)
G=0.018827/316 (TOMMO)
G=0.02381/5 (Vietnamese)
G=0.025929/2037 (PAGE_STUDY)
G=0.027439/9 (HapMap)
G=0.034934/64 (Korea1K)
G=0.037945/190 (1000Genomes)
G=0.040383/118 (KOREAN)
G=0.041826/11071 (TOPMED)
G=0.046092/46 (GoNL)
G=0.047983/6724 (GnomAD)
G=0.049367/39 (PRJEB37584)
G=0.053937/200 (TWINSUK)
G=0.064089/247 (ALSPAC)
G=0.075/3 (GENOME_DK)
G=0.077009/345 (Estonian)
G=0.096667/58 (NorthernSweden)
A=0.461538/12 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000003.12:g.12248301A>G, NC_000003.11:g.12289800A>G

PubMed

Select item 127797903.

rs12779790 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12286011 (GRCh38)
10:12328010 (GRCh37)
Canonical SPDI:: NC_000010.11:12286010:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.171886/4347 (ALFA)
G=0.115741/25 (Qatari)
G=0.127304/373 (KOREAN)
G=0.13522/43 (HapMap)
G=0.141667/85 (NorthernSweden)
G=0.141724/2375 (TOMMO)
G=0.157402/788 (1000Genomes)
G=0.161161/722 (Estonian)
G=0.164487/43538 (TOPMED)
G=0.169708/23679 (GnomAD)
G=0.181363/181 (GoNL)
G=0.188376/726 (ALSPAC)
G=0.192287/713 (TWINSUK)
G=0.212121/14 (PRJEB36033)
G=0.221698/47 (Vietnamese)
G=0.35/14 (GENOME_DK)
A=0.4375/7 (Siberian)
A=0.464286/78 (SGDP_PRJ)
HGVS:: NC_000010.11:g.12286011A>G, NC_000010.10:g.12328010A>G

PubMed

Select item 125956164.

rs12595616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:91020283 (GRCh38)
15:91563513 (GRCh37)
Canonical SPDI:: NC_000015.10:91020282:T:C
Gene:: VPS33B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.495719/12737 (ALFA)
T=0.001168/20 (TOMMO)
T=0.002729/5 (Korea1K)
T=0.00273/8 (KOREAN)
T=0.014019/3 (Vietnamese)
T=0.146939/72 (SGDP_PRJ)
T=0.26087/12 (Siberian)
T=0.276855/500 (HapMap)
T=0.278732/1396 (1000Genomes)
C=0.365/219 (NorthernSweden)
C=0.368123/1365 (TWINSUK)
C=0.379865/1464 (ALSPAC)
C=0.392786/392 (GoNL)
C=0.412723/1849 (Estonian)
T=0.418667/110817 (TOPMED)
C=0.430465/88278 (GENOGRAPHIC)
C=0.45/18 (GENOME_DK)
T=0.456171/63905 (GnomAD)
T=0.458333/99 (Qatari)
HGVS:: NC_000015.10:g.91020283T>C, NC_000015.9:g.91563513T>C, NG_012162.1:g.7321A>G

PubMed

Select item 117080675.

rs11708067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:123346931 (GRCh38)
3:123065778 (GRCh37)
Canonical SPDI:: NC_000003.12:123346930:A:G
Gene:: ADCY5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.207274/56818 (ALFA)
G=0.000342/1 (KOREAN)
G=0.002183/4 (Korea1K)
G=0.006313/5 (PRJEB37584)
G=0.02381/2 (PRJEB36033)
G=0.134259/29 (Qatari)
G=0.134756/221 (HapMap)
G=0.157402/788 (1000Genomes)
G=0.162277/727 (Estonian)
G=0.168975/13298 (PAGE_STUDY)
G=0.193333/116 (NorthernSweden)
G=0.194791/27263 (GnomAD)
G=0.196188/51929 (TOPMED)
G=0.235976/875 (TWINSUK)
G=0.242865/936 (ALSPAC)
G=0.275551/275 (GoNL)
G=0.3/12 (GENOME_DK)
G=0.311502/195 (Chileans)
A=0.416667/5 (Siberian)
A=0.42/63 (SGDP_PRJ)
HGVS:: NC_000003.12:g.123346931A>G, NC_000003.11:g.123065778A>G, NG_033882.1:g.106615T>C

PubMed

Select item 116343976.

rs11634397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:80139880 (GRCh38)
15:80432222 (GRCh37)
Canonical SPDI:: NC_000015.10:80139879:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.375731/104324 (ALFA)
G=0.085216/249 (KOREAN)
G=0.08679/159 (Korea1K)
G=0.102273/81 (PRJEB37584)
G=0.11215/24 (Vietnamese)
G=0.112393/1884 (TOMMO)
A=0.205882/14 (PRJEB36033)
A=0.25/11 (Siberian)
A=0.303483/122 (SGDP_PRJ)
A=0.321643/321 (GoNL)
A=0.339286/1520 (Estonian)
A=0.3452/1280 (TWINSUK)
A=0.351323/1354 (ALSPAC)
A=0.375/15 (GENOME_DK)
G=0.387949/734 (HapMap)
A=0.395/237 (NorthernSweden)
G=0.423323/265 (Chileans)
A=0.431571/60426 (GnomAD)
G=0.440974/2208 (1000Genomes)
A=0.445635/117955 (TOPMED)
A=0.453704/98 (Qatari)
G=0.459098/36131 (PAGE_STUDY)
HGVS:: NC_000015.10:g.80139880A>G, NC_000015.9:g.80432222A>G

PubMed

Select item 112576557.

rs11257655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:12265895 (GRCh38)
10:12307894 (GRCh37)
Canonical SPDI:: NC_000010.11:12265894:C:A,NC_000010.11:12265894:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.210704/64162 (ALFA)
T=0.171296/37 (Qatari)
T=0.181667/109 (NorthernSweden)
T=0.191295/857 (Estonian)
T=0.199399/199 (GoNL)
T=0.211165/783 (TWINSUK)
T=0.213544/823 (ALSPAC)
T=0.234269/32770 (GnomAD)
T=0.238551/63142 (TOPMED)
T=0.243902/20 (PRJEB36033)
T=0.271133/21336 (PAGE_STUDY)
T=0.293432/554 (HapMap)
T=0.297939/1492 (1000Genomes)
C=0.3125/10 (Siberian)
T=0.321017/669 (HGDP_Stanford)
T=0.35/14 (GENOME_DK)
C=0.380597/102 (SGDP_PRJ)
T=0.422606/7083 (TOMMO)
C=0.4375/343 (PRJEB37584)
T=0.449829/1318 (KOREAN)
T=0.452511/829 (Korea1K)
C=0.490566/104 (Vietnamese)
HGVS:: NC_000010.11:g.12265895C>A, NC_000010.11:g.12265895C>T, NC_000010.10:g.12307894C>A, NC_000010.10:g.12307894C>T

PubMed

Select item 112576008.

rs11257600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:12213658 (GRCh38)
10:12255657 (GRCh37)
Canonical SPDI:: NC_000010.11:12213657:G:T
Gene:: CDC123 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.255156/7868 (ALFA)
T=0.185185/40 (Qatari)
T=0.229343/1027 (Estonian)
T=0.238333/143 (NorthernSweden)
T=0.239479/239 (GoNL)
T=0.242718/900 (TWINSUK)
T=0.247016/952 (ALSPAC)
T=0.272182/38020 (GnomAD)
T=0.275394/72894 (TOPMED)
T=0.297386/91 (HapMap)
G=0.3125/10 (Siberian)
T=0.322299/1614 (1000Genomes)
T=0.325/13 (GENOME_DK)
G=0.350694/101 (SGDP_PRJ)
T=0.432939/7256 (TOMMO)
T=0.456314/1337 (KOREAN)
T=0.457969/839 (Korea1K)
G=0.481132/102 (Vietnamese)
HGVS:: NC_000010.11:g.12213658G>T, NC_000010.10:g.12255657G>T

PubMed

Select item 110655049.

rs11065504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:121242657 (GRCh38)
12:121680460 (GRCh37)
Canonical SPDI:: NC_000012.12:121242656:G:A,NC_000012.12:121242656:G:C
Gene:: CAMKK2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.301811/5534 (ALFA)
C=0.237976/1192 (1000Genomes)
C=0.253446/478 (HapMap)
C=0.273585/58 (Vietnamese)
C=0.295204/41354 (GnomAD)
C=0.296429/1328 (Estonian)
C=0.298334/78966 (TOPMED)
C=0.300926/65 (Qatari)
C=0.332472/5572 (TOMMO)
C=0.346548/1285 (TWINSUK)
C=0.347695/347 (GoNL)
C=0.349345/640 (Korea1K)
C=0.356772/1375 (ALSPAC)
C=0.365529/1071 (KOREAN)
C=0.375/225 (NorthernSweden)
C=0.4/16 (GENOME_DK)
G=0.400901/89 (SGDP_PRJ)
G=0.45/9 (Siberian)
HGVS:: NC_000012.12:g.121242657G>A, NC_000012.12:g.121242657G>C, NC_000012.11:g.121680460G>A, NC_000012.11:g.121680460G>C, NG_029409.1:g.60652C>T, NG_029409.1:g.60652C>G

PubMed

Select item 1106520210.

rs11065202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120674626 (GRCh38)
12:121112429 (GRCh37)
Canonical SPDI:: NC_000012.12:120674625:T:C
Gene:: CABP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.428173/69352 (ALFA)
T=0.264019/113 (SGDP_PRJ)
T=0.294118/10 (Siberian)
C=0.30126/5049 (TOMMO)
C=0.323144/592 (Korea1K)
C=0.330375/968 (KOREAN)
C=0.346667/208 (NorthernSweden)
C=0.35/14 (GENOME_DK)
C=0.365731/365 (GoNL)
C=0.377525/299 (PRJEB37584)
C=0.390625/1750 (Estonian)
C=0.40192/1549 (ALSPAC)
C=0.411812/1527 (TWINSUK)
T=0.435266/901 (HGDP_Stanford)
T=0.471482/37099 (PAGE_STUDY)
T=0.47158/2362 (1000Genomes)
C=0.479083/67063 (GnomAD)
T=0.479255/901 (HapMap)
C=0.4902/129751 (TOPMED)
C=0.49537/107 (Qatari)
HGVS:: NC_000012.12:g.120674626T>C, NC_000012.11:g.121112429T>C

PubMed

Select item 1088209511.

rs10882095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:92634645 (GRCh38)
10:94394402 (GRCh37)
Canonical SPDI:: NC_000010.11:92634644:T:A,NC_000010.11:92634644:T:G
Gene:: KIF11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.316834/5985 (ALFA)
G=0.297816/78829 (TOPMED)
G=0.298783/41838 (GnomAD)
G=0.301887/96 (HapMap)
G=0.306473/1373 (Estonian)
G=0.314815/68 (Qatari)
G=0.325/13 (GENOME_DK)
T=0.33046/115 (SGDP_PRJ)
T=0.333333/10 (Siberian)
T=0.337963/73 (Vietnamese)
G=0.341683/341 (GoNL)
T=0.348751/5845 (TOMMO)
G=0.35329/1310 (TWINSUK)
G=0.359107/1384 (ALSPAC)
G=0.365/219 (NorthernSweden)
G=0.370862/1857 (1000Genomes)
T=0.383276/1123 (KOREAN)
HGVS:: NC_000010.11:g.92634645T>A, NC_000010.11:g.92634645T>G, NC_000010.10:g.94394402T>A, NC_000010.10:g.94394402T>G, NG_032580.1:g.46578T>A, NG_032580.1:g.46578T>G

PubMed

Select item 1077456112.

rs10774561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:120600477 (GRCh38)
12:121038280 (GRCh37)
Canonical SPDI:: NC_000012.12:120600476:A:C,NC_000012.12:120600476:A:G,NC_000012.12:120600476:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.182407/2534 (ALFA)
C=0.24/72 (HapMap)
C=0.249219/1248 (1000Genomes)
C=0.256043/67772 (TOPMED)
C=0.296296/64 (Qatari)
C=0.322645/322 (GoNL)
C=0.325/195 (NorthernSweden)
C=0.325117/1253 (ALSPAC)
C=0.332794/1234 (TWINSUK)
A=0.37218/99 (SGDP_PRJ)
C=0.375/15 (GENOME_DK)
A=0.447619/94 (Vietnamese)
A=0.454545/10 (Siberian)
C=0.471616/864 (Korea1K)
C=0.49112/1438 (KOREAN)
HGVS:: NC_000012.12:g.120600477A>C, NC_000012.12:g.120600477A>G, NC_000012.12:g.120600477A>T, NC_000012.11:g.121038280A>C, NC_000012.11:g.121038280A>G, NC_000012.11:g.121038280A>T

PubMed

Select item 1074857913.

rs10748579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:92330741 (GRCh38)
10:94090498 (GRCh37)
Canonical SPDI:: NC_000010.11:92330740:A:C,NC_000010.11:92330740:A:G,NC_000010.11:92330740:A:T
Gene:: MARCHF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.39675/105491 (ALFA)
A=0.27451/112 (SGDP_PRJ)
A=0.365741/79 (Qatari)
A=0.4/16 (Siberian)
A=0.405812/405 (GoNL)
A=0.41178/1587 (ALSPAC)
A=0.419094/1554 (TWINSUK)
A=0.425/17 (GENOME_DK)
A=0.433923/114855 (TOPMED)
A=0.449089/62894 (GnomAD)
A=0.457309/35982 (PAGE_STUDY)
G=0.45757/7669 (TOMMO)
A=0.465/279 (NorthernSweden)
A=0.468942/1374 (KOREAN)
A=0.477232/2138 (Estonian)
A=0.481403/906 (HapMap)
A=0.481574/2412 (1000Genomes)
A=0.485849/103 (Vietnamese)
HGVS:: NC_000010.11:g.92330741A>C, NC_000010.11:g.92330741A>G, NC_000010.11:g.92330741A>T, NC_000010.10:g.94090498A>C, NC_000010.10:g.94090498A>G, NC_000010.10:g.94090498A>T

PubMed

Select item 1049007214.

rs10490072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:60442796 (GRCh38)
2:60669931 (GRCh37)
Canonical SPDI:: NC_000002.12:60442795:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.218279/5388 (ALFA)
C=0.001699/28 (TOMMO)
C=0.001711/5 (KOREAN)
C=0.002729/5 (Korea1K)
C=0.060185/13 (Qatari)
C=0.109942/188 (HapMap)
C=0.12336/618 (1000Genomes)
C=0.127796/80 (Chileans)
C=0.17774/47046 (TOPMED)
C=0.196673/27574 (GnomAD)
C=0.251687/970 (ALSPAC)
C=0.260248/965 (TWINSUK)
C=0.276553/276 (GoNL)
C=0.289509/1297 (Estonian)
C=0.345/207 (NorthernSweden)
C=0.4/16 (PRJEB36033)
C=0.425/17 (GENOME_DK)
T=0.4375/7 (Siberian)
T=0.459184/45 (SGDP_PRJ)
HGVS:: NC_000002.12:g.60442796T>C, NC_000002.11:g.60669931T>C

PubMed

Select item 804268015.

rs8042680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:90978107 (GRCh38)
15:91521337 (GRCh37)
Canonical SPDI:: NC_000015.10:90978106:C:A,NC_000015.10:90978106:C:G
Gene:: PRC1 (Varview), PRC1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.383103/133866 (ALFA)
C=0.000708/12 (TOMMO)
C=0.002729/5 (Korea1K)
C=0.00273/8 (KOREAN)
C=0.014423/3 (Vietnamese)
C=0.128631/62 (SGDP_PRJ)
C=0.223863/17618 (PAGE_STUDY)
C=0.25/11 (Siberian)
C=0.250294/426 (HapMap)
C=0.259213/1298 (1000Genomes)
C=0.273992/571 (HGDP_Stanford)
A=0.297195/1102 (TWINSUK)
A=0.3/12 (GENOME_DK)
A=0.30877/1190 (ALSPAC)
A=0.310621/310 (GoNL)
A=0.313333/188 (NorthernSweden)
A=0.359598/1611 (Estonian)
A=0.409091/36 (PRJEB36033)
C=0.419933/111152 (TOPMED)
C=0.435185/94 (Qatari)
C=0.46472/65097 (GnomAD)
A=0.46649/529 (Daghestan)
HGVS:: NC_000015.10:g.90978107C>A, NC_000015.10:g.90978107C>G, NC_000015.9:g.91521337C>A, NC_000015.9:g.91521337C>G, NG_050647.1:g.21545G>T, NG_050647.1:g.21545G>C

PubMed

Select item 795719716.

rs7957197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:121022883 (GRCh38)
12:121460686 (GRCh37)
Canonical SPDI:: NC_000012.12:121022882:T:A
Gene:: OASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.187661/16039 (ALFA)
A=0.000684/2 (KOREAN)
A=0.001263/1 (PRJEB37584)
A=0.00463/1 (Vietnamese)
A=0.1/33 (HapMap)
A=0.107589/539 (1000Genomes)
A=0.125/5 (GENOME_DK)
A=0.1378/10844 (PAGE_STUDY)
A=0.169512/44868 (TOPMED)
A=0.180525/25293 (GnomAD)
A=0.190399/706 (TWINSUK)
A=0.191741/859 (Estonian)
A=0.200052/771 (ALSPAC)
A=0.203704/44 (Qatari)
A=0.210421/210 (GoNL)
A=0.213333/128 (NorthernSweden)
A=0.238095/10 (PRJEB36033)
T=0.433333/39 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000012.12:g.121022883T>A, NC_000012.11:g.121460686T>A

PubMed

Select item 767421217.

rs7674212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:103067742 (GRCh38)
4:103988899 (GRCh37)
Canonical SPDI:: NC_000004.12:103067741:G:A,NC_000004.12:103067741:G:T
Gene:: SLC9B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.418769/37154 (ALFA)
G=0.287565/111 (SGDP_PRJ)
G=0.340909/15 (Siberian)
T=0.348799/639 (Korea1K)
T=0.349147/1023 (KOREAN)
T=0.35/14 (GENOME_DK)
T=0.355262/5954 (TOMMO)
G=0.358696/594 (HapMap)
T=0.388333/233 (NorthernSweden)
T=0.4/4 (PRJEB36033)
T=0.407228/1510 (TWINSUK)
T=0.41645/1605 (ALSPAC)
G=0.421296/91 (Qatari)
T=0.428305/87835 (GENOGRAPHIC)
T=0.430357/1928 (Estonian)
T=0.442886/442 (GoNL)
G=0.443629/2222 (1000Genomes)
G=0.446311/118134 (TOPMED)
G=0.473129/986 (HGDP_Stanford)
HGVS:: NC_000004.12:g.103067742G>A, NC_000004.12:g.103067742G>T, NC_000004.11:g.103988899G>A, NC_000004.11:g.103988899G>T

PubMed

Select item 757832618.

rs7578326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:226155937 (GRCh38)
2:227020653 (GRCh37)
Canonical SPDI:: NC_000002.12:226155936:A:G
Gene:: LOC646736 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.342813/93265 (ALFA)
G=0.130841/28 (Vietnamese)
G=0.144304/114 (PRJEB37584)
G=0.169966/498 (KOREAN)
G=0.178493/327 (Korea1K)
G=0.2/8 (GENOME_DK)
G=0.221298/3709 (TOMMO)
G=0.279271/582 (HGDP_Stanford)
G=0.290131/1453 (1000Genomes)
G=0.292812/554 (HapMap)
G=0.307218/349 (Daghestan)
G=0.319444/69 (Qatari)
G=0.326222/25673 (PAGE_STUDY)
G=0.3452/1280 (TWINSUK)
G=0.347768/1558 (Estonian)
G=0.350804/1352 (ALSPAC)
G=0.35109/92930 (TOPMED)
G=0.354709/354 (GoNL)
G=0.360133/50410 (GnomAD)
G=0.403333/242 (NorthernSweden)
G=0.414634/34 (PRJEB36033)
A=0.428571/12 (Siberian)
A=0.445378/106 (SGDP_PRJ)
HGVS:: NC_000002.12:g.226155937A>G, NC_000002.11:g.227020653A>G

PubMed

Select item 737232119.

rs7372321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:64728139 (GRCh38)
3:64713815 (GRCh37)
Canonical SPDI:: NC_000003.12:64728138:T:A,NC_000003.12:64728138:T:C,NC_000003.12:64728138:T:G
Gene:: ADAMTS9-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.075427/221 (KOREAN)
T=0.097552/25821 (TOPMED)
C=0.1/4 (GENOME_DK)
T=0.106884/59 (SGDP_PRJ)
T=0.112875/128 (HapMap)
T=0.12/6 (Siberian)
T=0.158451/180 (Daghestan)
C=0.259289/2422 (TOMMO)
C=0.413265/81 (NorthernSweden)
T=0.435185/94 (Qatari)
T=0.462107/500 (Korea1K)
C=0.466583/2988 (1000Genomes)
HGVS:: NC_000003.12:g.64728139T>A, NC_000003.12:g.64728139T>C, NC_000003.12:g.64728139T>G, NC_000003.11:g.64713815T>A, NC_000003.11:g.64713815T>C, NC_000003.11:g.64713815T>G

PubMed

Select item 686425020.

rs6864250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:77154365 (GRCh38)
5:76450190 (GRCh37)
Canonical SPDI:: NC_000005.10:77154364:T:A,NC_000005.10:77154364:T:C,NC_000005.10:77154364:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.423914/29334 (ALFA)
G=0./0 (KOREAN)
T=0.093458/20 (Vietnamese)
T=0.142467/261 (Korea1K)
T=0.148737/2493 (TOMMO)
T=0.227907/98 (SGDP_PRJ)
T=0.272727/12 (Siberian)
T=0.338839/1518 (Estonian)
T=0.356481/77 (Qatari)
T=0.379079/790 (HGDP_Stanford)
T=0.391667/235 (NorthernSweden)
T=0.3998/399 (GoNL)
T=0.4/16 (GENOME_DK)
T=0.40603/83267 (GENOGRAPHIC)
T=0.418007/1611 (ALSPAC)
T=0.421251/1562 (TWINSUK)
C=0.45296/857 (HapMap)
C=0.463486/122680 (TOPMED)
C=0.472468/66223 (GnomAD)
C=0.473684/36 (PRJEB36033)
C=0.499844/2503 (1000Genomes)
HGVS:: NC_000005.10:g.77154365T>A, NC_000005.10:g.77154365T>C, NC_000005.10:g.77154365T>G, NC_000005.9:g.76450190T>A, NC_000005.9:g.76450190T>C, NC_000005.9:g.76450190T>G

PubMed

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