JAZF1-AS1 - SNP

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Select item 1223621.

rs122362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:28237276 (GRCh38)
7:28276895 (GRCh37)
Canonical SPDI:: NC_000007.14:28237275:A:C,NC_000007.14:28237275:A:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.348078/38684 (ALFA)
C=0.11215/24 (Vietnamese)
C=0.127999/2145 (TOMMO)
C=0.145392/426 (KOREAN)
C=0.208774/395 (HapMap)
C=0.239069/1197 (1000Genomes)
C=0.273148/59 (Qatari)
C=0.284549/593 (HGDP_Stanford)
C=0.29479/78028 (TOPMED)
C=0.355/213 (NorthernSweden)
C=0.380384/1466 (ALSPAC)
A=0.385827/98 (SGDP_PRJ)
C=0.40481/404 (GoNL)
C=0.408306/1514 (TWINSUK)
A=0.409091/9 (Siberian)
C=0.414286/1856 (Estonian)
C=0.432099/490 (Daghestan)
C=0.466667/42 (PRJEB36033)
C=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.28237276A>C, NC_000007.14:g.28237276A>T, NC_000007.13:g.28276895A>C, NC_000007.13:g.28276895A>T

Select item 4756152.

rs475615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:28224206 (GRCh38)
7:28263825 (GRCh37)
Canonical SPDI:: NC_000007.14:28224205:T:A,NC_000007.14:28224205:T:C,NC_000007.14:28224205:T:G
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.232462/5872 (ALFA)
G=0./0 (KOREAN)
T=0.12782/68 (SGDP_PRJ)
T=0.15/6 (GENOME_DK)
T=0.167139/2801 (TOMMO)
T=0.171296/37 (Qatari)
T=0.172345/172 (GoNL)
T=0.173913/8 (Siberian)
T=0.182243/39 (Vietnamese)
T=0.196667/118 (NorthernSweden)
T=0.204694/375 (Korea1K)
T=0.21317/955 (Estonian)
T=0.273579/1370 (1000Genomes)
T=0.284868/39881 (GnomAD)
T=0.287415/76076 (TOPMED)
HGVS:: NC_000007.14:g.28224206T>A, NC_000007.14:g.28224206T>C, NC_000007.14:g.28224206T>G, NC_000007.13:g.28263825T>A, NC_000007.13:g.28263825T>C, NC_000007.13:g.28263825T>G

Select item 4768603.

rs476860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:28225995 (GRCh38)
7:28265614 (GRCh37)
Canonical SPDI:: NC_000007.14:28225994:G:C,NC_000007.14:28225994:G:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.250919/6010 (ALFA)
G=0.129699/69 (SGDP_PRJ)
G=0.15/6 (GENOME_DK)
G=0.167174/2802 (TOMMO)
G=0.171296/37 (Qatari)
G=0.173347/173 (GoNL)
G=0.173913/8 (Siberian)
G=0.196667/118 (NorthernSweden)
G=0.204694/375 (Korea1K)
G=0.213616/957 (Estonian)
G=0.226621/664 (KOREAN)
G=0.274047/1372 (1000Genomes)
G=0.284264/39806 (GnomAD)
G=0.287355/76060 (TOPMED)
G=0.312148/555 (HapMap)
HGVS:: NC_000007.14:g.28225995G>C, NC_000007.14:g.28225995G>T, NC_000007.13:g.28265614G>C, NC_000007.13:g.28265614G>T

Select item 4782664.

rs478266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:28221725 (GRCh38)
7:28261344 (GRCh37)
Canonical SPDI:: NC_000007.14:28221724:C:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.413557/16778 (ALFA)
C=0.325521/125 (SGDP_PRJ)
C=0.371429/78 (Vietnamese)
T=0.383319/30168 (PAGE_STUDY)
C=0.388881/6517 (TOMMO)
T=0.392697/103943 (TOPMED)
T=0.393519/85 (Qatari)
T=0.401269/56156 (GnomAD)
T=0.403029/2018 (1000Genomes)
C=0.411765/14 (Siberian)
T=0.416226/472 (Daghestan)
T=0.432866/432 (GoNL)
T=0.433333/260 (NorthernSweden)
T=0.435132/1677 (ALSPAC)
T=0.449554/2014 (Estonian)
T=0.450108/1669 (TWINSUK)
C=0.460751/1350 (KOREAN)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.28221725C>T, NC_000007.13:g.28261344C>T

Select item 4888375.

rs488837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:28228257 (GRCh38)
7:28267876 (GRCh37)
Canonical SPDI:: NC_000007.14:28228256:C:A,NC_000007.14:28228256:C:G,NC_000007.14:28228256:C:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.193745/46689 (ALFA)
C=0.075/6 (PRJEB36033)
C=0.134615/70 (SGDP_PRJ)
C=0.15/6 (GENOME_DK)
C=0.167492/2807 (TOMMO)
C=0.171296/37 (Qatari)
C=0.172345/172 (GoNL)
C=0.172897/37 (Vietnamese)
C=0.173913/8 (Siberian)
C=0.196667/118 (NorthernSweden)
C=0.205786/377 (Korea1K)
C=0.207379/163 (PRJEB37584)
C=0.213616/957 (Estonian)
C=0.226962/665 (KOREAN)
C=0.292473/1465 (1000Genomes)
C=0.303714/80390 (TOPMED)
C=0.329281/623 (HapMap)
C=0.356985/28094 (PAGE_STUDY)
HGVS:: NC_000007.14:g.28228257C>A, NC_000007.14:g.28228257C>G, NC_000007.14:g.28228257C>T, NC_000007.13:g.28267876C>A, NC_000007.13:g.28267876C>G, NC_000007.13:g.28267876C>T

Select item 4906096.

rs490609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:28228426 (GRCh38)
7:28268045 (GRCh37)
Canonical SPDI:: NC_000007.14:28228425:C:G,NC_000007.14:28228425:C:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.176926/9594 (ALFA)
C=0.091912/50 (SGDP_PRJ)
C=0.092593/20 (Qatari)
C=0.135228/677 (1000Genomes)
C=0.136508/258 (HapMap)
C=0.139187/10954 (PAGE_STUDY)
C=0.15/6 (GENOME_DK)
C=0.151411/40077 (TOPMED)
C=0.156058/21869 (GnomAD)
C=0.163551/35 (Vietnamese)
C=0.167351/2804 (TOMMO)
C=0.168337/168 (GoNL)
C=0.1875/9 (Siberian)
C=0.193333/116 (NorthernSweden)
C=0.20067/899 (Estonian)
C=0.20524/376 (Korea1K)
C=0.226962/665 (KOREAN)
HGVS:: NC_000007.14:g.28228426C>G, NC_000007.14:g.28228426C>T, NC_000007.13:g.28268045C>G, NC_000007.13:g.28268045C>T

Select item 4931957.

rs493195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:28230570 (GRCh38)
7:28270189 (GRCh37)
Canonical SPDI:: NC_000007.14:28230569:A:G
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.1958/4671 (ALFA)
A=0.092593/20 (Qatari)
A=0.099631/54 (SGDP_PRJ)
A=0.15/6 (GENOME_DK)
A=0.167422/2806 (TOMMO)
A=0.169823/269 (HapMap)
A=0.170341/170 (GoNL)
A=0.176296/883 (1000Genomes)
A=0.182243/39 (Vietnamese)
A=0.1875/9 (Siberian)
A=0.190155/50332 (TOPMED)
A=0.192472/26955 (GnomAD)
A=0.193333/116 (NorthernSweden)
A=0.201116/901 (Estonian)
A=0.204694/375 (Korea1K)
A=0.22628/663 (KOREAN)
HGVS:: NC_000007.14:g.28230570A>G, NC_000007.13:g.28270189A>G

Select item 4939618.

rs493961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:28222707 (GRCh38)
7:28262326 (GRCh37)
Canonical SPDI:: NC_000007.14:28222706:C:A,NC_000007.14:28222706:C:G
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.254897/4815 (ALFA)
C=0.123106/65 (SGDP_PRJ)
C=0.15/6 (GENOME_DK)
C=0.166667/36 (Vietnamese)
C=0.168625/2826 (TOMMO)
C=0.172345/172 (GoNL)
C=0.173913/8 (Siberian)
C=0.175926/38 (Qatari)
C=0.192524/39482 (GENOGRAPHIC)
C=0.196667/118 (NorthernSweden)
C=0.207969/381 (Korea1K)
C=0.213393/956 (Estonian)
C=0.230717/676 (KOREAN)
C=0.28529/1429 (1000Genomes)
C=0.29377/41159 (GnomAD)
C=0.297416/78723 (TOPMED)
C=0.324339/613 (HapMap)
HGVS:: NC_000007.14:g.28222707C>A, NC_000007.14:g.28222707C>G, NC_000007.13:g.28262326C>A, NC_000007.13:g.28262326C>G

Select item 4984759.

rs498475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:28216621 (GRCh38)
7:28256240 (GRCh37)
Canonical SPDI:: NC_000007.14:28216620:G:A
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.430982/41707 (ALFA)
A=0.010581/177 (TOMMO)
A=0.013689/40 (KOREAN)
A=0.03271/7 (Vietnamese)
G=0.25/10 (Siberian)
A=0.289123/521 (HapMap)
A=0.303263/632 (HGDP_Stanford)
A=0.30965/1551 (1000Genomes)
G=0.346457/88 (SGDP_PRJ)
G=0.355134/1591 (Estonian)
G=0.358414/1329 (TWINSUK)
G=0.378378/28 (PRJEB36033)
G=0.380125/1465 (ALSPAC)
G=0.380762/380 (GoNL)
G=0.4/16 (GENOME_DK)
G=0.413333/248 (NorthernSweden)
A=0.42492/266 (Chileans)
A=0.457271/121035 (TOPMED)
G=0.472222/102 (Qatari)
A=0.485891/551 (Daghestan)
A=0.487857/68260 (GnomAD)
HGVS:: NC_000007.14:g.28216621G>A, NC_000007.13:g.28256240G>A

PubMed

Select item 50223210.

rs502232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:28223585 (GRCh38)
7:28263204 (GRCh37)
Canonical SPDI:: NC_000007.14:28223584:C:A,NC_000007.14:28223584:C:G,NC_000007.14:28223584:C:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.278459/6037 (ALFA)
C=0.129699/69 (SGDP_PRJ)
C=0.15/6 (GENOME_DK)
C=0.169811/36 (Vietnamese)
C=0.171296/37 (Qatari)
C=0.172345/172 (GoNL)
C=0.173913/8 (Siberian)
C=0.198333/119 (NorthernSweden)
C=0.204694/375 (Korea1K)
C=0.213393/956 (Estonian)
C=0.226621/664 (KOREAN)
C=0.272642/1365 (1000Genomes)
C=0.286834/75922 (TOPMED)
C=0.331288/108 (HapMap)
HGVS:: NC_000007.14:g.28223585C>A, NC_000007.14:g.28223585C>G, NC_000007.14:g.28223585C>T, NC_000007.13:g.28263204C>A, NC_000007.13:g.28263204C>G, NC_000007.13:g.28263204C>T

Select item 52419311.

rs524193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:28223733 (GRCh38)
7:28263352 (GRCh37)
Canonical SPDI:: NC_000007.14:28223732:G:A,NC_000007.14:28223732:G:C,NC_000007.14:28223732:G:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.229477/6558 (ALFA)
T=0./0 (KOREAN)
G=0.12782/68 (SGDP_PRJ)
G=0.15/6 (GENOME_DK)
G=0.167492/2807 (TOMMO)
G=0.171296/37 (Qatari)
G=0.172345/172 (GoNL)
G=0.173913/8 (Siberian)
G=0.17757/38 (Vietnamese)
G=0.196667/118 (NorthernSweden)
G=0.20524/376 (Korea1K)
G=0.213616/957 (Estonian)
G=0.272798/1366 (1000Genomes)
G=0.283865/39715 (GnomAD)
G=0.286849/75926 (TOPMED)
HGVS:: NC_000007.14:g.28223733G>A, NC_000007.14:g.28223733G>C, NC_000007.14:g.28223733G>T, NC_000007.13:g.28263352G>A, NC_000007.13:g.28263352G>C, NC_000007.13:g.28263352G>T

Select item 52763712.

rs527637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:28215019 (GRCh38)
7:28254638 (GRCh37)
Canonical SPDI:: NC_000007.14:28215018:T:A,NC_000007.14:28215018:T:C,NC_000007.14:28215018:T:G
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.126693/2245 (ALFA)
G=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (TOMMO)
T=0.004717/1 (Vietnamese)
T=0.05292/29 (SGDP_PRJ)
T=0.059806/300 (1000Genomes)
T=0.064815/21 (HapMap)
T=0.071429/4 (Siberian)
T=0.090876/24054 (TOPMED)
T=0.097222/21 (Qatari)
T=0.102032/14312 (GnomAD)
T=0.139063/623 (Estonian)
T=0.15/6 (GENOME_DK)
T=0.153307/153 (GoNL)
T=0.153333/92 (NorthernSweden)
T=0.157239/606 (ALSPAC)
T=0.157767/585 (TWINSUK)
HGVS:: NC_000007.14:g.28215019T>A, NC_000007.14:g.28215019T>C, NC_000007.14:g.28215019T>G, NC_000007.13:g.28254638T>A, NC_000007.13:g.28254638T>C, NC_000007.13:g.28254638T>G

Select item 53776413.

rs537764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:28228044 (GRCh38)
7:28267663 (GRCh37)
Canonical SPDI:: NC_000007.14:28228043:G:A
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.215904/4078 (ALFA)
A=0.013554/227 (TOMMO)
A=0.014286/3 (Vietnamese)
A=0.019105/35 (Korea1K)
A=0.020192/59 (KOREAN)
A=0.12539/628 (1000Genomes)
A=0.148148/32 (Qatari)
A=0.172666/45703 (TOPMED)
A=0.190512/26592 (GnomAD)
A=0.198333/119 (NorthernSweden)
A=0.229459/229 (GoNL)
A=0.233524/900 (ALSPAC)
A=0.25/10 (GENOME_DK)
A=0.253506/940 (TWINSUK)
A=0.275123/1232 (Estonian)
G=0.403226/50 (SGDP_PRJ)
G=0.5/10 (Siberian)
HGVS:: NC_000007.14:g.28228044G>A, NC_000007.13:g.28267663G>A

Select item 53853614.

rs538536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:28228089 (GRCh38)
7:28267708 (GRCh37)
Canonical SPDI:: NC_000007.14:28228088:G:A,NC_000007.14:28228088:G:C,NC_000007.14:28228088:G:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.257173/4858 (ALFA)
T=0./0 (KOREAN)
G=0.137931/72 (SGDP_PRJ)
G=0.15/6 (GENOME_DK)
G=0.171296/37 (Qatari)
G=0.172345/172 (GoNL)
G=0.173402/2906 (TOMMO)
G=0.174528/37 (Vietnamese)
G=0.195652/9 (Siberian)
G=0.196667/118 (NorthernSweden)
G=0.215179/964 (Estonian)
G=0.217249/398 (Korea1K)
G=0.293567/1470 (1000Genomes)
G=0.299816/41937 (GnomAD)
G=0.303718/80391 (TOPMED)
HGVS:: NC_000007.14:g.28228089G>A, NC_000007.14:g.28228089G>C, NC_000007.14:g.28228089G>T, NC_000007.13:g.28267708G>A, NC_000007.13:g.28267708G>C, NC_000007.13:g.28267708G>T

Select item 54463215.

rs544632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:28238191 (GRCh38)
7:28277810 (GRCh37)
Canonical SPDI:: NC_000007.14:28238190:C:A,NC_000007.14:28238190:C:G,NC_000007.14:28238190:C:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.013554/227 (TOMMO)
T=0.013889/3 (Vietnamese)
T=0.019105/35 (Korea1K)
T=0.019849/58 (KOREAN)
T=0.191911/961 (1000Genomes)
T=0.212963/46 (Qatari)
T=0.260822/69037 (TOPMED)
T=0.293333/176 (NorthernSweden)
T=0.311623/311 (GoNL)
T=0.325/13 (GENOME_DK)
T=0.33342/1285 (ALSPAC)
T=0.350593/1300 (TWINSUK)
T=0.38192/1711 (Estonian)
C=0.412088/75 (SGDP_PRJ)
C=0.461538/12 (Siberian)
HGVS:: NC_000007.14:g.28238191C>A, NC_000007.14:g.28238191C>G, NC_000007.14:g.28238191C>T, NC_000007.13:g.28277810C>A, NC_000007.13:g.28277810C>G, NC_000007.13:g.28277810C>T

Select item 55044816.

rs550448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:28189423 (GRCh38)
7:28229042 (GRCh37)
Canonical SPDI:: NC_000007.14:28189422:G:A,NC_000007.14:28189422:G:C,NC_000007.14:28189422:G:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.133137/17057 (ALFA)
T=0./0 (KOREAN)
G=0./0 (Korea1K)
G=0./0 (PRJEB36033)
G=0./0 (TOMMO)
G=0.002525/2 (PRJEB37584)
G=0.067766/37 (SGDP_PRJ)
G=0.071429/4 (Siberian)
G=0.111024/556 (1000Genomes)
G=0.113116/8902 (PAGE_STUDY)
G=0.125/5 (GENOME_DK)
G=0.131595/34832 (TOPMED)
G=0.138333/83 (NorthernSweden)
G=0.13862/19421 (GnomAD)
G=0.139955/627 (Estonian)
G=0.140281/140 (GoNL)
G=0.140374/541 (ALSPAC)
G=0.141046/523 (TWINSUK)
G=0.160875/250 (HapMap)
G=0.171296/37 (Qatari)
HGVS:: NC_000007.14:g.28189423G>A, NC_000007.14:g.28189423G>C, NC_000007.14:g.28189423G>T, NC_000007.13:g.28229042G>A, NC_000007.13:g.28229042G>C, NC_000007.13:g.28229042G>T

PubMed LitVar

Select item 56147417.

rs561474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:28234903 (GRCh38)
7:28274522 (GRCh37)
Canonical SPDI:: NC_000007.14:28234902:A:G,NC_000007.14:28234902:A:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.206307/10945 (ALFA)
A=0./0 (PRJEB36033)
A=0.133721/69 (SGDP_PRJ)
A=0.138889/30 (Qatari)
A=0.15/6 (GENOME_DK)
A=0.166667/36 (Vietnamese)
A=0.170854/2863 (TOMMO)
A=0.173913/8 (Siberian)
A=0.174349/174 (GoNL)
A=0.196667/118 (NorthernSweden)
A=0.20524/376 (Korea1K)
A=0.213616/957 (Estonian)
A=0.214491/447 (HGDP_Stanford)
A=0.226621/664 (KOREAN)
A=0.263978/1322 (1000Genomes)
A=0.285266/75507 (TOPMED)
A=0.327331/618 (HapMap)
HGVS:: NC_000007.14:g.28234903A>G, NC_000007.14:g.28234903A>T, NC_000007.13:g.28274522A>G, NC_000007.13:g.28274522A>T

Select item 56220218.

rs562202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:28223896 (GRCh38)
7:28263515 (GRCh37)
Canonical SPDI:: NC_000007.14:28223895:A:C,NC_000007.14:28223895:A:G,NC_000007.14:28223895:A:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.190793/4136 (ALFA)
T=0./0 (KOREAN)
A=0.097426/53 (SGDP_PRJ)
A=0.115741/25 (Qatari)
A=0.122359/139 (Daghestan)
A=0.15/6 (GENOME_DK)
A=0.163804/820 (1000Genomes)
A=0.167103/2800 (TOMMO)
A=0.171343/171 (GoNL)
A=0.173913/8 (Siberian)
A=0.174528/37 (Vietnamese)
A=0.180959/47898 (TOPMED)
A=0.184573/25862 (GnomAD)
A=0.196667/118 (NorthernSweden)
A=0.204148/374 (Korea1K)
A=0.212054/950 (Estonian)
HGVS:: NC_000007.14:g.28223896A>C, NC_000007.14:g.28223896A>G, NC_000007.14:g.28223896A>T, NC_000007.13:g.28263515A>C, NC_000007.13:g.28263515A>G, NC_000007.13:g.28263515A>T

Select item 56246319.

rs562463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:28235019 (GRCh38)
7:28274638 (GRCh37)
Canonical SPDI:: NC_000007.14:28235018:G:A,NC_000007.14:28235018:G:C
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.224725/4001 (ALFA)
G=0.12406/66 (SGDP_PRJ)
G=0.12963/28 (Qatari)
G=0.15/6 (GENOME_DK)
G=0.170341/170 (GoNL)
G=0.170677/2860 (TOMMO)
G=0.172897/37 (Vietnamese)
G=0.1875/9 (Siberian)
G=0.193333/116 (NorthernSweden)
G=0.201786/904 (Estonian)
G=0.205786/377 (Korea1K)
G=0.22628/663 (KOREAN)
G=0.239538/1200 (1000Genomes)
G=0.248944/34876 (GnomAD)
G=0.25021/66228 (TOPMED)
G=0.274841/520 (HapMap)
HGVS:: NC_000007.14:g.28235019G>A, NC_000007.14:g.28235019G>C, NC_000007.13:g.28274638G>A, NC_000007.13:g.28274638G>C

Select item 56255820.

rs562558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:28235049 (GRCh38)
7:28274668 (GRCh37)
Canonical SPDI:: NC_000007.14:28235048:C:T
Gene:: JAZF1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.207518/6404 (ALFA)
C=0.12406/66 (SGDP_PRJ)
C=0.12963/28 (Qatari)
C=0.15/6 (GENOME_DK)
C=0.170341/170 (GoNL)
C=0.170677/2860 (TOMMO)
C=0.17757/38 (Vietnamese)
C=0.1875/9 (Siberian)
C=0.193333/116 (NorthernSweden)
C=0.202009/905 (Estonian)
C=0.205786/377 (Korea1K)
C=0.226621/664 (KOREAN)
C=0.239538/1200 (1000Genomes)
C=0.248929/34868 (GnomAD)
C=0.250421/66284 (TOPMED)
HGVS:: NC_000007.14:g.28235049C>T, NC_000007.13:g.28274668C>T

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