CLEC4E - SNP

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Select item 42428961.

rs4242896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:8536403 (GRCh38)
12:8688999 (GRCh37)
Canonical SPDI:: NC_000012.12:8536402:A:C,NC_000012.12:8536402:A:G
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.465326/8790 (ALFA)
A=0.152174/7 (Siberian)
A=0.324201/142 (SGDP_PRJ)
A=0.375/15 (GENOME_DK)
A=0.398148/86 (Qatari)
A=0.413828/413 (GoNL)
A=0.415/249 (NorthernSweden)
A=0.420083/1619 (ALSPAC)
A=0.433118/1606 (TWINSUK)
A=0.43817/1963 (Estonian)
A=0.460068/1348 (KOREAN)
A=0.460699/844 (Korea1K)
A=0.4797/2402 (1000Genomes)
A=0.491296/68696 (GnomAD)
A=0.492745/8258 (TOMMO)
A=0.495327/106 (Vietnamese)
C=0.496728/131479 (TOPMED)
HGVS:: NC_000012.12:g.8536403A>C, NC_000012.12:g.8536403A>G, NC_000012.11:g.8688999A>C, NC_000012.11:g.8688999A>G

Select item 45518222.

rs4551822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:8538109 (GRCh38)
12:8690705 (GRCh37)
Canonical SPDI:: NC_000012.12:8538108:A:C,NC_000012.12:8538108:A:G,NC_000012.12:8538108:A:T
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.229787/108 (SGDP_PRJ)
A=0.25/54 (Qatari)
A=0.27097/71723 (TOPMED)
A=0.275/11 (GENOME_DK)
A=0.293587/293 (GoNL)
A=0.309524/13 (Siberian)
A=0.316343/1173 (TWINSUK)
A=0.32/192 (NorthernSweden)
A=0.323235/1619 (1000Genomes)
A=0.325636/1255 (ALSPAC)
A=0.3625/1624 (Estonian)
A=0.445254/7462 (TOMMO)
A=0.445415/816 (Korea1K)
A=0.457679/1341 (KOREAN)
C=0.481132/102 (Vietnamese)
HGVS:: NC_000012.12:g.8538109A>C, NC_000012.12:g.8538109A>G, NC_000012.12:g.8538109A>T, NC_000012.11:g.8690705A>C, NC_000012.11:g.8690705A>G, NC_000012.11:g.8690705A>T

Select item 45628743.

rs4562874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:8538646 (GRCh38)
12:8691242 (GRCh37)
Canonical SPDI:: NC_000012.12:8538645:G:A,NC_000012.12:8538645:G:C
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.446585/8436 (ALFA)
G=0.152174/7 (Siberian)
G=0.317982/145 (SGDP_PRJ)
G=0.375/15 (GENOME_DK)
G=0.384259/83 (Qatari)
G=0.413828/413 (GoNL)
G=0.415/249 (NorthernSweden)
G=0.420602/1621 (ALSPAC)
G=0.433927/1609 (TWINSUK)
G=0.435185/141 (HapMap)
G=0.438839/1966 (Estonian)
G=0.444878/2228 (1000Genomes)
G=0.457547/97 (Vietnamese)
G=0.458667/64196 (GnomAD)
G=0.466212/1366 (KOREAN)
G=0.468159/123917 (TOPMED)
G=0.469978/861 (Korea1K)
G=0.498372/8353 (TOMMO)
HGVS:: NC_000012.12:g.8538646G>A, NC_000012.12:g.8538646G>C, NC_000012.11:g.8691242G>A, NC_000012.11:g.8691242G>C

Select item 46207764.

rs4620776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:8540737 (GRCh38)
12:8693333 (GRCh37)
Canonical SPDI:: NC_000012.12:8540736:G:A,NC_000012.12:8540736:G:C
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.261504/59919 (ALFA)
G=0.134615/7 (Siberian)
G=0.194444/42 (Qatari)
G=0.225/135 (NorthernSweden)
G=0.225281/2930 (GoESP)
G=0.230469/118 (SGDP_PRJ)
G=0.236473/236 (GoNL)
G=0.2452/945 (ALSPAC)
G=0.248321/65728 (TOPMED)
G=0.249461/925 (TWINSUK)
G=0.257705/485 (HapMap)
G=0.267333/1339 (1000Genomes)
G=0.275/11 (GENOME_DK)
G=0.276787/21782 (PAGE_STUDY)
G=0.292763/89 (FINRISK)
G=0.294007/157 (MGP)
G=0.297321/1332 (Estonian)
G=0.336709/266 (PRJEB37584)
G=0.368996/676 (Korea1K)
G=0.372355/1091 (KOREAN)
G=0.399351/246 (Vietnamese)
G=0.428091/7175 (TOMMO)
HGVS:: NC_000012.12:g.8540737G>A, NC_000012.12:g.8540737G>C, NC_000012.11:g.8693333G>A, NC_000012.11:g.8693333G>C

PubMed LitVar

Select item 48831665.

rs4883166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:8541599 (GRCh38)
12:8694195 (GRCh37)
Canonical SPDI:: NC_000012.12:8541598:T:A,NC_000012.12:8541598:T:C
Gene:: CLEC4E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.13502/1900 (ALFA)
C=0.189815/41 (Qatari)
C=0.225/135 (NorthernSweden)
C=0.227212/31752 (GnomAD)
C=0.235642/62372 (TOPMED)
C=0.238477/238 (GoNL)
C=0.243124/937 (ALSPAC)
C=0.247573/918 (TWINSUK)
C=0.25/10 (GENOME_DK)
C=0.252967/1267 (1000Genomes)
C=0.294196/1318 (Estonian)
C=0.368996/676 (Korea1K)
C=0.371155/1086 (KOREAN)
T=0.4/8 (Siberian)
C=0.423311/7091 (TOMMO)
T=0.427536/118 (SGDP_PRJ)
HGVS:: NC_000012.12:g.8541599T>A, NC_000012.12:g.8541599T>C, NC_000012.11:g.8694195T>A, NC_000012.11:g.8694195T>C

Select item 48831676.

rs4883167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:8541671 (GRCh38)
12:8694267 (GRCh37)
Canonical SPDI:: NC_000012.12:8541670:T:A,NC_000012.12:8541670:T:G
Gene:: CLEC4E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.260106/34657 (ALFA)
T=0.153846/8 (Siberian)
T=0.194444/42 (Qatari)
T=0.223333/134 (NorthernSweden)
T=0.237452/123 (SGDP_PRJ)
T=0.239479/239 (GoNL)
T=0.243383/938 (ALSPAC)
T=0.25/10 (GENOME_DK)
T=0.25/927 (TWINSUK)
T=0.256546/35900 (GnomAD)
T=0.26706/70688 (TOPMED)
T=0.281855/1412 (1000Genomes)
T=0.292063/552 (HapMap)
T=0.294866/1321 (Estonian)
T=0.365721/670 (Korea1K)
T=0.367918/1078 (KOREAN)
T=0.402913/83 (Vietnamese)
T=0.426393/7146 (TOMMO)
HGVS:: NC_000012.12:g.8541671T>A, NC_000012.12:g.8541671T>G, NC_000012.11:g.8694267T>A, NC_000012.11:g.8694267T>G

Select item 48831687.

rs4883168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:8542388 (GRCh38)
12:8694984 (GRCh37)
Canonical SPDI:: NC_000012.12:8542387:T:A,NC_000012.12:8542387:T:C,NC_000012.12:8542387:T:G
Gene:: CLEC4E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.293229/8930 (ALFA)
C=0.222222/48 (Qatari)
C=0.234845/62161 (TOPMED)
C=0.241755/33793 (GnomAD)
C=0.261087/1308 (1000Genomes)
C=0.295591/295 (GoNL)
C=0.3/12 (GENOME_DK)
C=0.326321/1210 (TWINSUK)
C=0.328333/197 (NorthernSweden)
C=0.337571/1301 (ALSPAC)
T=0.342105/13 (Siberian)
T=0.346154/99 (SGDP_PRJ)
C=0.38058/1705 (Estonian)
C=0.408843/749 (Korea1K)
C=0.410008/6872 (TOMMO)
C=0.425234/91 (Vietnamese)
C=0.430375/1261 (KOREAN)
HGVS:: NC_000012.12:g.8542388T>A, NC_000012.12:g.8542388T>C, NC_000012.12:g.8542388T>G, NC_000012.11:g.8694984T>A, NC_000012.11:g.8694984T>C, NC_000012.11:g.8694984T>G

Select item 50142258.

rs5014225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:8540644 (GRCh38)
12:8693240 (GRCh37)
Canonical SPDI:: NC_000012.12:8540643:C:A,NC_000012.12:8540643:C:T
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.26558/4057 (ALFA)
C=0.17391/8 (Siberian)
C=0.22833/137 (NorthernSweden)
C=0.23647/236 (GoNL)
C=0.27046/1354 (1000Genomes)
C=0.275/11 (GENOME_DK)
C=0.28906/148 (SGDP_PRJ)
C=0.30116/1348 (Estonian)
C=0.34722/75 (Qatari)
C=0.37009/678 (Korea1K)
C=0.42859/12111 (TOMMO)
C=0.48294/1415 (KOREAN)
C=0.49625/265 (MGP)
HGVS:: NC_000012.12:g.8540644C>A, NC_000012.12:g.8540644C>T, NC_000012.11:g.8693240C>A, NC_000012.11:g.8693240C>T

Select item 57963139.

rs5796313 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 12:8540643 (GRCh38)
12:8693240 (GRCh37)
Canonical SPDI:: NC_000012.12:8540643::A,NC_000012.12:8540643::T
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8540643_8540644insA, NC_000012.12:g.8540643_8540644insT, NC_000012.11:g.8693239_8693240insA, NC_000012.11:g.8693239_8693240insT

Select item 648724210.

rs6487242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:8537770 (GRCh38)
12:8690366 (GRCh37)
Canonical SPDI:: NC_000012.12:8537769:G:C
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.463261/8751 (ALFA)
G=0.325893/146 (SGDP_PRJ)
G=0.375/15 (GENOME_DK)
G=0.388889/84 (Qatari)
G=0.41483/414 (GoNL)
G=0.415/249 (NorthernSweden)
G=0.438393/1964 (Estonian)
G=0.467918/1371 (KOREAN)
G=0.472707/866 (Korea1K)
G=0.472986/2369 (1000Genomes)
G=0.486607/68126 (GnomAD)
G=0.498126/131849 (TOPMED)
G=0.498691/8358 (TOMMO)
HGVS:: NC_000012.12:g.8537770G>C, NC_000012.11:g.8690366G>C

Select item 713217711.

rs7132177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:8541193 (GRCh38)
12:8693789 (GRCh37)
Canonical SPDI:: NC_000012.12:8541192:G:A,NC_000012.12:8541192:G:C
Gene:: CLEC4E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.249762/4718 (ALFA)
G=0.134615/7 (Siberian)
G=0.194444/42 (Qatari)
G=0.223333/134 (NorthernSweden)
G=0.228846/119 (SGDP_PRJ)
G=0.23536/32900 (GnomAD)
G=0.237475/237 (GoNL)
G=0.244421/942 (ALSPAC)
G=0.244622/64749 (TOPMED)
G=0.248112/920 (TWINSUK)
G=0.25/10 (GENOME_DK)
G=0.261711/1311 (1000Genomes)
G=0.294643/1320 (Estonian)
G=0.368996/676 (Korea1K)
G=0.373379/1094 (KOREAN)
G=0.425926/92 (Vietnamese)
G=0.427631/7167 (TOMMO)
HGVS:: NC_000012.12:g.8541193G>A, NC_000012.12:g.8541193G>C, NC_000012.11:g.8693789G>A, NC_000012.11:g.8693789G>C

Select item 713922712.

rs7139227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8538546 (GRCh38)
12:8691142 (GRCh37)
Canonical SPDI:: NC_000012.12:8538545:A:G
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.418793/7911 (ALFA)
A=0.152174/7 (Siberian)
A=0.278455/137 (SGDP_PRJ)
A=0.367358/673 (Korea1K)
A=0.37037/80 (Qatari)
A=0.371672/1089 (KOREAN)
A=0.38351/1921 (1000Genomes)
A=0.408505/57127 (GnomAD)
A=0.40982/409 (GoNL)
A=0.414424/109694 (TOPMED)
A=0.415/249 (NorthernSweden)
A=0.41645/1605 (ALSPAC)
A=0.43071/7219 (TOMMO)
A=0.433118/1606 (TWINSUK)
A=0.435185/94 (Vietnamese)
A=0.439286/1968 (Estonian)
HGVS:: NC_000012.12:g.8538546A>G, NC_000012.11:g.8691142A>G

Select item 730690313.

rs7306903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:8541211 (GRCh38)
12:8693807 (GRCh37)
Canonical SPDI:: NC_000012.12:8541210:T:A,NC_000012.12:8541210:T:C
Gene:: CLEC4E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.249815/4719 (ALFA)
T=0.14/7 (Siberian)
T=0.194444/42 (Qatari)
T=0.223333/134 (NorthernSweden)
T=0.230769/120 (SGDP_PRJ)
T=0.235427/32923 (GnomAD)
T=0.237475/237 (GoNL)
T=0.244421/942 (ALSPAC)
T=0.244528/64724 (TOPMED)
T=0.248112/920 (TWINSUK)
T=0.261555/1310 (1000Genomes)
T=0.294866/1321 (Estonian)
T=0.368996/676 (Korea1K)
T=0.372696/1092 (KOREAN)
T=0.427596/7167 (TOMMO)
T=0.435185/94 (Vietnamese)
HGVS:: NC_000012.12:g.8541211T>A, NC_000012.12:g.8541211T>C, NC_000012.11:g.8693807T>A, NC_000012.11:g.8693807T>C

Select item 730722814.

rs7307228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:8535479 (GRCh38)
12:8688075 (GRCh37)
Canonical SPDI:: NC_000012.12:8535478:T:A,NC_000012.12:8535478:T:C,NC_000012.12:8535478:T:G
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000293/5 (ALFA)
T=0.152174/7 (Siberian)
G=0.23913/22 (PRJEB36033)
T=0.278926/135 (SGDP_PRJ)
T=0.360808/661 (Korea1K)
T=0.368601/1080 (KOREAN)
T=0.375/15 (GENOME_DK)
T=0.37963/82 (Qatari)
T=0.399906/2003 (1000Genomes)
T=0.404362/723 (HapMap)
T=0.410822/410 (GoNL)
T=0.424528/90 (Vietnamese)
T=0.427076/87583 (GENOGRAPHIC)
T=0.427462/113145 (TOPMED)
T=0.431913/7239 (TOMMO)
T=0.43736/1955 (Estonian)
G=0.468051/293 (Chileans)
HGVS:: NC_000012.12:g.8535479T>A, NC_000012.12:g.8535479T>C, NC_000012.12:g.8535479T>G, NC_000012.11:g.8688075T>A, NC_000012.11:g.8688075T>C, NC_000012.11:g.8688075T>G

Select item 1060548815.

rs10605488 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 12:8541144 (GRCh38)
12:8693740 (GRCh37)
Canonical SPDI:: NC_000012.12:8541135:TTTTTTTTTT:TTTTTTTT,NC_000012.12:8541135:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:8541135:TTTTTTTTTT:TTTTTTTTTTT
Gene:: CLEC4E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.342958/2518 (ALFA)
T=0.223333/134 (NorthernSweden)
T=0.237475/237 (GoNL)
T=0.243383/938 (ALSPAC)
T=0.246494/914 (TWINSUK)
T=0.247236/65441 (TOPMED)
T=0.25/10 (GENOME_DK)
T=0.263741/1321 (1000Genomes)
T=0.294866/1321 (Estonian)
T=0.368996/676 (Korea1K)
HGVS:: NC_000012.12:g.8541144_8541145del, NC_000012.12:g.8541145del, NC_000012.12:g.8541145dup, NC_000012.11:g.8693740_8693741del, NC_000012.11:g.8693741del, NC_000012.11:g.8693741dup

Select item 1077084516.

rs10770845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:8542714 (GRCh38)
12:8695310 (GRCh37)
Canonical SPDI:: NC_000012.12:8542713:T:A,NC_000012.12:8542713:T:C
Gene:: CLEC4E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.245089/8335 (ALFA)
T=0.134615/7 (Siberian)
C=0.166667/2 (PRJEB36033)
T=0.189815/41 (Qatari)
T=0.220307/115 (SGDP_PRJ)
T=0.220665/30879 (GnomAD)
T=0.223333/134 (NorthernSweden)
T=0.228853/60575 (TOPMED)
T=0.234043/308 (HapMap)
T=0.242485/242 (GoNL)
T=0.243902/940 (ALSPAC)
T=0.244847/1226 (1000Genomes)
T=0.248652/922 (TWINSUK)
T=0.25/10 (GENOME_DK)
T=0.271635/565 (HGDP_Stanford)
T=0.294643/1320 (Estonian)
T=0.364629/668 (Korea1K)
T=0.366212/1073 (KOREAN)
T=0.401408/6728 (TOMMO)
T=0.425234/91 (Vietnamese)
HGVS:: NC_000012.12:g.8542714T>A, NC_000012.12:g.8542714T>C, NC_000012.11:g.8695310T>A, NC_000012.11:g.8695310T>C

Select item 1084184517.

rs10841845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:8533837 (GRCh38)
12:8686433 (GRCh37)
Canonical SPDI:: NC_000012.12:8533836:A:C,NC_000012.12:8533836:A:G,NC_000012.12:8533836:A:T
Gene:: CLEC4E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.303595/92951 (ALFA)
T=0./0 (KOREAN)
G=0./0 (PRJEB36033)
G=0.24537/53 (Qatari)
G=0.273327/72347 (TOPMED)
G=0.275/11 (GENOME_DK)
G=0.27664/21672 (PAGE_STUDY)
G=0.277876/38921 (GnomAD)
G=0.279598/529 (HapMap)
G=0.296593/296 (GoNL)
G=0.323235/1619 (1000Genomes)
G=0.323333/194 (NorthernSweden)
G=0.324164/1202 (TWINSUK)
G=0.336015/1295 (ALSPAC)
A=0.342105/13 (Siberian)
G=0.34309/715 (HGDP_Stanford)
A=0.358491/114 (SGDP_PRJ)
G=0.373214/1672 (Estonian)
G=0.439241/347 (PRJEB37584)
G=0.452049/7576 (TOMMO)
G=0.456332/836 (Korea1K)
G=0.490741/106 (Vietnamese)
HGVS:: NC_000012.12:g.8533837A>C, NC_000012.12:g.8533837A>G, NC_000012.12:g.8533837A>T, NC_000012.11:g.8686433A>C, NC_000012.11:g.8686433A>G, NC_000012.11:g.8686433A>T, NM_014358.4:c.*801T>G, NM_014358.4:c.*801T>C, NM_014358.4:c.*801T>A, NM_014358.3:c.*801T>G, NM_014358.3:c.*801T>C, NM_014358.3:c.*801T>A, NM_014358.2:c.*801T>G, NM_014358.2:c.*801T>C, NM_014358.2:c.*801T>A, XM_011520614.4:c.*801T>G, XM_011520614.4:c.*801T>C, XM_011520614.4:c.*801T>A, XM_011520615.2:c.*801T>G, XM_011520615.2:c.*801T>C, XM_011520615.2:c.*801T>A, NM_001410969.1:c.*801T>G, NM_001410969.1:c.*801T>C, NM_001410969.1:c.*801T>A

PubMed LitVar

Select item 1084184618.

rs10841846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:8535108 (GRCh38)
12:8687704 (GRCh37)
Canonical SPDI:: NC_000012.12:8535107:A:G,NC_000012.12:8535107:A:T
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.329487/6224 (ALFA)
T=0.273148/59 (Qatari)
T=0.275/11 (GENOME_DK)
T=0.296593/296 (GoNL)
T=0.311455/82439 (TOPMED)
T=0.315087/44099 (GnomAD)
T=0.323333/194 (NorthernSweden)
T=0.324973/1205 (TWINSUK)
T=0.334356/109 (HapMap)
T=0.336015/1295 (ALSPAC)
A=0.342105/13 (Siberian)
A=0.363636/120 (SGDP_PRJ)
T=0.366021/1833 (1000Genomes)
T=0.379688/1701 (Estonian)
T=0.452898/7591 (TOMMO)
T=0.455786/835 (Korea1K)
T=0.463823/1359 (KOREAN)
T=0.495283/105 (Vietnamese)
HGVS:: NC_000012.12:g.8535108A>G, NC_000012.12:g.8535108A>T, NC_000012.11:g.8687704A>G, NC_000012.11:g.8687704A>T

Select item 1084184719.

rs10841847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:8535216 (GRCh38)
12:8687812 (GRCh37)
Canonical SPDI:: NC_000012.12:8535215:A:C,NC_000012.12:8535215:A:G
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.434373/65361 (ALFA)
A=0.152174/7 (Siberian)
G=0.1875/6 (PRJEB36033)
A=0.280992/136 (SGDP_PRJ)
A=0.360808/661 (Korea1K)
A=0.368601/1080 (KOREAN)
A=0.375/15 (GENOME_DK)
A=0.380071/431 (Daghestan)
A=0.384259/83 (Qatari)
A=0.397399/825 (HGDP_Stanford)
A=0.400106/753 (HapMap)
A=0.401624/2011 (1000Genomes)
A=0.410822/410 (GoNL)
A=0.415/249 (NorthernSweden)
A=0.415672/1602 (ALSPAC)
A=0.421504/59014 (GnomAD)
A=0.427553/113169 (TOPMED)
A=0.431499/1600 (TWINSUK)
A=0.431807/7237 (TOMMO)
A=0.43817/1963 (Estonian)
A=0.443925/95 (Vietnamese)
HGVS:: NC_000012.12:g.8535216A>C, NC_000012.12:g.8535216A>G, NC_000012.11:g.8687812A>C, NC_000012.11:g.8687812A>G

PubMed LitVar

Select item 1084185620.

rs10841856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8540247 (GRCh38)
12:8692843 (GRCh37)
Canonical SPDI:: NC_000012.12:8540246:C:T
Gene:: CLEC4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.435063/147856 (ALFA)
C=0.152174/7 (Siberian)
C=0.318182/140 (SGDP_PRJ)
T=0.333333/14 (PRJEB36033)
C=0.375/15 (GENOME_DK)
C=0.384259/83 (Qatari)
C=0.411667/247 (NorthernSweden)
C=0.411824/411 (GoNL)
C=0.417748/1610 (ALSPAC)
C=0.429612/1593 (TWINSUK)
C=0.432589/1938 (Estonian)
C=0.461092/1351 (KOREAN)
C=0.463016/964 (HGDP_Stanford)
C=0.465334/2330 (1000Genomes)
C=0.465611/853 (Korea1K)
C=0.466667/98 (Vietnamese)
T=0.472068/37148 (PAGE_STUDY)
C=0.478421/66956 (GnomAD)
C=0.487756/8175 (TOMMO)
C=0.489293/914 (HapMap)
C=0.490147/129737 (TOPMED)
HGVS:: NC_000012.12:g.8540247C>T, NC_000012.11:g.8692843C>T

PubMed LitVar

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