DUSP23 - SNP

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Select item 11299231.

rs1129923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:159782276 (GRCh38)
1:159752066 (GRCh37)
Canonical SPDI:: NC_000001.11:159782275:G:A,NC_000001.11:159782275:G:T
Gene:: DUSP23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.091717/32601 (ALFA)
A=0.000814/14 (TOMMO)
A=0.001092/2 (Korea1K)
A=0.002053/6 (KOREAN)
A=0.003788/3 (PRJEB37584)
A=0.009804/6 (Vietnamese)
A=0.018519/4 (Qatari)
A=0.03531/2779 (PAGE_STUDY)
A=0.054172/87 (HapMap)
A=0.054702/114 (HGDP_Stanford)
A=0.060431/303 (1000Genomes)
A=0.06162/70 (Daghestan)
A=0.061914/16388 (TOPMED)
A=0.066508/865 (GoESP)
A=0.070121/9820 (GnomAD)
A=0.075/3 (GENOME_DK)
A=0.078652/42 (MGP)
A=0.084847/327 (ALSPAC)
A=0.085/51 (NorthernSweden)
A=0.08504/10321 (ExAC)
A=0.09493/352 (TWINSUK)
A=0.101202/101 (GoNL)
A=0.12567/563 (Estonian)
A=0.131579/40 (FINRISK)
A=0.173913/16 (PRJEB36033)
G=0.482143/27 (SGDP_PRJ)
G=0.5/6 (Siberian)
HGVS:: NC_000001.11:g.159782276G>A, NC_000001.11:g.159782276G>T, NC_000001.10:g.159752066G>A, NC_000001.10:g.159752066G>T, NM_017823.5:c.391G>A, NM_017823.5:c.391G>T, NM_017823.4:c.391G>A, NM_017823.4:c.391G>T, NM_017823.3:c.391G>A, NM_017823.3:c.391G>T, NM_001319658.2:c.391G>A, NM_001319658.2:c.391G>T, NM_001319658.1:c.391G>A, NM_001319658.1:c.391G>T, NM_001319659.2:c.391G>A, NM_001319659.2:c.391G>T, NM_001319659.1:c.391G>A, NM_001319659.1:c.391G>T, NP_060293.2:p.Gly131Ser, NP_060293.2:p.Gly131Cys, NP_001306587.1:p.Gly131Ser, NP_001306587.1:p.Gly131Cys, NP_001306588.1:p.Gly131Ser, NP_001306588.1:p.Gly131Cys

PubMed LitVar

Select item 11299322.

rs1129932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:159782356 (GRCh38)
1:159752146 (GRCh37)
Canonical SPDI:: NC_000001.11:159782355:C:G,NC_000001.11:159782355:C:T
Gene:: DUSP23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.159782356C>G, NC_000001.11:g.159782356C>T, NC_000001.10:g.159752146C>G, NC_000001.10:g.159752146C>T, NM_017823.5:c.*18C>G, NM_017823.5:c.*18C>T, NM_017823.4:c.*18C>G, NM_017823.4:c.*18C>T, NM_017823.3:c.*18C>G, NM_017823.3:c.*18C>T, NM_001319658.2:c.*18C>G, NM_001319658.2:c.*18C>T, NM_001319658.1:c.*18C>G, NM_001319658.1:c.*18C>T, NM_001319659.2:c.*18C>G, NM_001319659.2:c.*18C>T, NM_001319659.1:c.*18C>G, NM_001319659.1:c.*18C>T

Select item 38061843.

rs3806184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:159779076 (GRCh38)
1:159748866 (GRCh37)
Canonical SPDI:: NC_000001.11:159779075:T:A,NC_000001.11:159779075:T:C,NC_000001.11:159779075:T:G
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.490406/17278 (ALFA)
G=0./0 (KOREAN)
T=0.160037/2682 (TOMMO)
T=0.211245/387 (Korea1K)
T=0.215481/103 (SGDP_PRJ)
T=0.222222/48 (Vietnamese)
T=0.3/15 (Siberian)
T=0.364772/1827 (1000Genomes)
T=0.408036/1828 (Estonian)
C=0.425/17 (GENOME_DK)
T=0.428161/113330 (TOPMED)
T=0.432139/60477 (GnomAD)
C=0.438242/1625 (TWINSUK)
C=0.454333/1751 (ALSPAC)
C=0.462926/462 (GoNL)
T=0.49537/107 (Qatari)
C=0.498333/299 (NorthernSweden)
HGVS:: NC_000001.11:g.159779076T>A, NC_000001.11:g.159779076T>C, NC_000001.11:g.159779076T>G, NC_000001.10:g.159748866T>A, NC_000001.10:g.159748866T>C, NC_000001.10:g.159748866T>G, XR_007066673.1:n.306A>T, XR_007066673.1:n.306A>G, XR_007066673.1:n.306A>C, XR_007066674.1:n.306A>T, XR_007066674.1:n.306A>G, XR_007066674.1:n.306A>C

Select item 38061854.

rs3806185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159779096 (GRCh38)
1:159748886 (GRCh37)
Canonical SPDI:: NC_000001.11:159779095:C:T
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.150858/24465 (ALFA)
T=0.097222/21 (Qatari)
T=0.125/5 (GENOME_DK)
T=0.129995/501 (ALSPAC)
T=0.13351/18692 (GnomAD)
T=0.135797/35944 (TOPMED)
T=0.142125/527 (TWINSUK)
T=0.142694/11230 (PAGE_STUDY)
T=0.14377/90 (Chileans)
T=0.145/87 (NorthernSweden)
T=0.151303/151 (GoNL)
T=0.179241/803 (Estonian)
T=0.183457/346 (HapMap)
T=0.201124/1007 (1000Genomes)
T=0.222169/463 (HGDP_Stanford)
T=0.272727/18 (PRJEB36033)
T=0.310306/5201 (TOMMO)
T=0.315502/578 (Korea1K)
T=0.335025/264 (PRJEB37584)
T=0.345392/1012 (KOREAN)
C=0.388889/7 (Siberian)
T=0.398148/86 (Vietnamese)
C=0.426724/99 (SGDP_PRJ)
HGVS:: NC_000001.11:g.159779096C>T, NC_000001.10:g.159748886C>T, XR_007066673.1:n.286G>A, XR_007066674.1:n.286G>A

Select item 38061865.

rs3806186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:159779320 (GRCh38)
1:159749110 (GRCh37)
Canonical SPDI:: NC_000001.11:159779319:T:C,NC_000001.11:159779319:T:G
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.300974/8408 (ALFA)
G=0.282407/61 (Qatari)
T=0.30402/121 (SGDP_PRJ)
G=0.304746/1130 (TWINSUK)
G=0.315516/1216 (ALSPAC)
G=0.328657/328 (GoNL)
G=0.35/14 (GENOME_DK)
T=0.352941/12 (Siberian)
G=0.381667/229 (NorthernSweden)
T=0.404096/1184 (KOREAN)
G=0.409147/108297 (TOPMED)
T=0.410149/6874 (TOMMO)
T=0.42631/781 (Korea1K)
G=0.447991/2007 (Estonian)
G=0.472205/2365 (1000Genomes)
HGVS:: NC_000001.11:g.159779320T>C, NC_000001.11:g.159779320T>G, NC_000001.10:g.159749110T>C, NC_000001.10:g.159749110T>G, XR_922193.3:n.62A>G, XR_922193.3:n.62A>C, XR_922193.2:n.1468A>G, XR_922193.2:n.1468A>C, XR_922193.1:n.1501A>G, XR_922193.1:n.1501A>C, XR_007066673.1:n.62A>G, XR_007066673.1:n.62A>C, XR_007066674.1:n.62A>G, XR_007066674.1:n.62A>C

Select item 38061876.

rs3806187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:159780839 (GRCh38)
1:159750629 (GRCh37)
Canonical SPDI:: NC_000001.11:159780838:G:A
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.173782/37954 (ALFA)
A=0.02439/2 (PRJEB36033)
A=0.056075/12 (Vietnamese)
A=0.083333/18 (Qatari)
A=0.113636/215 (HapMap)
A=0.134447/673 (1000Genomes)
A=0.151631/316 (HGDP_Stanford)
A=0.154989/41024 (TOPMED)
A=0.168048/23569 (GnomAD)
A=0.169863/496 (KOREAN)
A=0.172345/172 (GoNL)
A=0.173139/642 (TWINSUK)
A=0.181223/332 (Korea1K)
A=0.192527/742 (ALSPAC)
A=0.196135/3287 (TOMMO)
A=0.226667/136 (NorthernSweden)
A=0.25/10 (GENOME_DK)
A=0.279464/1252 (Estonian)
G=0.436709/69 (SGDP_PRJ)
G=0.5/10 (Siberian)
HGVS:: NC_000001.11:g.159780839G>A, NC_000001.10:g.159750629G>A

Select item 38061887.

rs3806188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:159780942 (GRCh38)
1:159750732 (GRCh37)
Canonical SPDI:: NC_000001.11:159780941:A:C,NC_000001.11:159780941:A:T
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.264345/2156 (ALFA)
A=0.258583/4333 (TOMMO)
A=0.273756/121 (SGDP_PRJ)
A=0.323751/946 (KOREAN)
A=0.325/13 (Siberian)
A=0.339844/609 (Korea1K)
C=0.35/14 (GENOME_DK)
C=0.421296/91 (Qatari)
C=0.426667/256 (NorthernSweden)
A=0.450968/2258 (1000Genomes)
C=0.482366/2161 (Estonian)
T=0.48867/129346 (TOPMED)
HGVS:: NC_000001.11:g.159780942A>C, NC_000001.11:g.159780942A>T, NC_000001.10:g.159750732A>C, NC_000001.10:g.159750732A>T

Select item 38061898.

rs3806189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:159781012 (GRCh38)
1:159750802 (GRCh37)
Canonical SPDI:: NC_000001.11:159781011:G:C
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.194348/3246 (ALFA)
C=0.083333/18 (Qatari)
C=0.131098/43 (HapMap)
C=0.136633/684 (1000Genomes)
C=0.167923/490 (KOREAN)
C=0.17345/24326 (GnomAD)
C=0.179342/665 (TWINSUK)
C=0.182379/325 (Korea1K)
C=0.191749/739 (ALSPAC)
C=0.196397/3291 (TOMMO)
C=0.226667/136 (NorthernSweden)
C=0.25/10 (GENOME_DK)
C=0.292634/1311 (Estonian)
G=0.4375/70 (SGDP_PRJ)
G=0.5/10 (Siberian)
HGVS:: NC_000001.11:g.159781012G>C, NC_000001.10:g.159750802G>C, NM_001319658.2:c.-89G>C, NM_001319658.1:c.-89G>C

Select item 38200999.

rs3820099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:159779398 (GRCh38)
1:159749188 (GRCh37)
Canonical SPDI:: NC_000001.11:159779397:C:A,NC_000001.11:159779397:C:G,NC_000001.11:159779397:C:T
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.472482/90692 (ALFA)
T=0./0 (KOREAN)
C=0.163634/2743 (TOMMO)
C=0.211297/101 (SGDP_PRJ)
C=0.213428/391 (Korea1K)
C=0.228972/49 (Vietnamese)
C=0.3/15 (Siberian)
C=0.358925/748 (HGDP_Stanford)
C=0.36262/227 (Chileans)
C=0.364616/1826 (1000Genomes)
C=0.368254/696 (HapMap)
C=0.404762/34 (PRJEB36033)
C=0.409821/1836 (Estonian)
A=0.425/17 (GENOME_DK)
C=0.42625/112824 (TOPMED)
C=0.431475/60019 (GnomAD)
A=0.437972/1624 (TWINSUK)
A=0.454074/1750 (ALSPAC)
A=0.463928/463 (GoNL)
A=0.483162/99085 (GENOGRAPHIC)
C=0.490741/106 (Qatari)
A=0.498333/299 (NorthernSweden)
HGVS:: NC_000001.11:g.159779398C>A, NC_000001.11:g.159779398C>G, NC_000001.11:g.159779398C>T, NC_000001.10:g.159749188C>A, NC_000001.10:g.159749188C>G, NC_000001.10:g.159749188C>T

Select item 384042410.

rs3840424 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTAGTGCAACCAGA>-,GGTAGTGCAACCAGAGGTAGTGCAACCAGA [Show Flanks]
Chromosome:: 1:159779256 (GRCh38)
1:159749046 (GRCh37)
Canonical SPDI:: NC_000001.11:159779250:CCAGAGGTAGTGCAACCAGA:CCAGA,NC_000001.11:159779250:CCAGAGGTAGTGCAACCAGA:CCAGAGGTAGTGCAACCAGAGGTAGTGCAACCAGA
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCAGA=0.218099/3562 (ALFA)
-=0.166127/616 (TWINSUK)
-=0.175218/321 (Korea1K)
-=0.18296/3066 (TOMMO)
-=0.183446/707 (ALSPAC)
-=0.190194/952 (1000Genomes)
-=0.21312/29645 (GnomAD)
-=0.223333/134 (NorthernSweden)
-=0.25/10 (GENOME_DK)
-=0.275/1232 (Estonian)
HGVS:: NC_000001.11:g.159779256_159779270del, NC_000001.11:g.159779256_159779270dup, NC_000001.10:g.159749046_159749060del, NC_000001.10:g.159749046_159749060dup, XR_922193.3:n.117_131del, XR_922193.3:n.117_131dup, XR_922193.2:n.1523_1537del, XR_922193.2:n.1523_1537dup, XR_922193.1:n.1556_1570del, XR_922193.1:n.1556_1570dup, XR_007066673.1:n.117_131del, XR_007066673.1:n.117_131dup, XR_007066674.1:n.117_131del, XR_007066674.1:n.117_131dup

Select item 577813311.

rs5778133 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:159780942 (GRCh38)
1:159750733 (GRCh37)
Canonical SPDI:: NC_000001.11:159780942:CCC:CCCC
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.159780945dup, NC_000001.10:g.159750735dup

Select item 667041112.

rs6670411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:159779406 (GRCh38)
1:159749196 (GRCh37)
Canonical SPDI:: NC_000001.11:159779405:G:T
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0./0 (HapMap)
HGVS:: NC_000001.11:g.159779406G>T, NC_000001.10:g.159749196G>T

Select item 1154444313.

rs11544443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:159782256 (GRCh38)
1:159752046 (GRCh37)
Canonical SPDI:: NC_000001.11:159782255:A:T
Gene:: DUSP23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.006202/713 (ALFA)
T=0.001169/92 (PAGE_STUDY)
T=0.001786/8 (Estonian)
T=0.001874/9 (1000Genomes)
T=0.003333/2 (NorthernSweden)
T=0.003748/992 (TOPMED)
T=0.003967/556 (GnomAD)
T=0.00463/1 (Qatari)
T=0.004787/1204 (GnomAD_exomes)
T=0.004998/65 (GoESP)
T=0.005223/634 (ExAC)
T=0.006289/2 (HapMap)
T=0.007525/29 (ALSPAC)
T=0.007551/28 (TWINSUK)
T=0.009018/9 (GoNL)
T=0.009363/5 (MGP)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.159782256A>T, NC_000001.10:g.159752046A>T, NM_017823.5:c.371A>T, NM_017823.4:c.371A>T, NM_017823.3:c.371A>T, NM_001319658.2:c.371A>T, NM_001319658.1:c.371A>T, NM_001319659.2:c.371A>T, NM_001319659.1:c.371A>T, NP_060293.2:p.Glu124Val, NP_001306587.1:p.Glu124Val, NP_001306588.1:p.Glu124Val

Select item 1154444514.

rs11544445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:159782212 (GRCh38)
1:159752002 (GRCh37)
Canonical SPDI:: NC_000001.11:159782211:C:G,NC_000001.11:159782211:C:T
Gene:: DUSP23 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000016/2 (ExAC)
HGVS:: NC_000001.11:g.159782212C>G, NC_000001.11:g.159782212C>T, NC_000001.10:g.159752002C>G, NC_000001.10:g.159752002C>T, NM_017823.5:c.327C>G, NM_017823.5:c.327C>T, NM_017823.4:c.327C>G, NM_017823.4:c.327C>T, NM_017823.3:c.327C>G, NM_017823.3:c.327C>T, NM_001319658.2:c.327C>G, NM_001319658.2:c.327C>T, NM_001319658.1:c.327C>G, NM_001319658.1:c.327C>T, NM_001319659.2:c.327C>G, NM_001319659.2:c.327C>T, NM_001319659.1:c.327C>G, NM_001319659.1:c.327C>T, NP_060293.2:p.Tyr109Ter, NP_001306587.1:p.Tyr109Ter, NP_001306588.1:p.Tyr109Ter

Select item 1157754015.

rs11577540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:159782557 (GRCh38)
1:159752347 (GRCh37)
Canonical SPDI:: NC_000001.11:159782556:T:G
Gene:: DUSP23 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0./0 (HapMap)
HGVS:: NC_000001.11:g.159782557T>G, NC_000001.10:g.159752347T>G

Select item 1158285216.

rs11582852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:159779575 (GRCh38)
1:159749365 (GRCh37)
Canonical SPDI:: NC_000001.11:159779574:G:A,NC_000001.11:159779574:G:C
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.001969/1 (HapMap)
HGVS:: NC_000001.11:g.159779575G>A, NC_000001.11:g.159779575G>C, NC_000001.10:g.159749365G>A, NC_000001.10:g.159749365G>C

Select item 1203404917.

rs12034049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:159782730 (GRCh38)
1:159752520 (GRCh37)
Canonical SPDI:: NC_000001.11:159782729:C:G
Gene:: DUSP23 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0./0 (HapMap)
HGVS:: NC_000001.11:g.159782730C>G, NC_000001.10:g.159752520C>G

Select item 4131752718.

rs41317527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:159782052 (GRCh38)
1:159751842 (GRCh37)
Canonical SPDI:: NC_000001.11:159782051:C:A
Gene:: DUSP23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.016168/499 (ALFA)
A=0.008929/40 (Estonian)
A=0.015568/60 (ALSPAC)
A=0.016181/60 (TWINSUK)
A=0.017697/2481 (GnomAD)
A=0.018333/11 (NorthernSweden)
A=0.022472/12 (MGP)
A=0.022864/6052 (TOPMED)
A=0.023148/5 (Qatari)
A=0.026052/26 (GoNL)
A=0.029044/145 (1000Genomes)
A=0.048544/10 (Vietnamese)
A=0.075633/221 (KOREAN)
A=0.076965/141 (Korea1K)
A=0.099802/1673 (TOMMO)
C=0.483333/29 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000001.11:g.159782052C>A, NC_000001.10:g.159751842C>A

Select item 4131752919.

rs41317529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:159782087 (GRCh38)
1:159751877 (GRCh37)
Canonical SPDI:: NC_000001.11:159782086:G:A
Gene:: DUSP23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.015556/295 (ALFA)
A=0.008929/40 (Estonian)
A=0.015568/60 (ALSPAC)
A=0.016181/60 (TWINSUK)
A=0.017681/2480 (GnomAD)
A=0.018333/11 (NorthernSweden)
A=0.022864/6052 (TOPMED)
A=0.023148/5 (Qatari)
A=0.024345/13 (MGP)
A=0.026052/26 (GoNL)
A=0.029044/145 (1000Genomes)
A=0.046729/10 (Vietnamese)
A=0.075633/221 (KOREAN)
A=0.076965/141 (Korea1K)
A=0.099802/1673 (TOMMO)
G=0.483333/29 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000001.11:g.159782087G>A, NC_000001.10:g.159751877G>A

Select item 5872718520.

rs58727185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159780218 (GRCh38)
1:159750008 (GRCh37)
Canonical SPDI:: NC_000001.11:159780217:C:T
Gene:: DUSP23 (Varview), LOC101928264 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000001.11:g.159780218C>T, NC_000001.10:g.159750008C>T

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