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1.

rs1776148 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    1:241879243 (GRCh38)
    1:242042545 (GRCh37)
    Canonical SPDI:
    NC_000001.11:241879242:A:G,NC_000001.11:241879242:A:T
    Gene:
    EXO1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.3578202/102265 (ALFA)
    A=0.1713198/135 (PRJEB37584)
    A=0.1746725/320 (Korea1K)
    A=0.1897611/556 (KOREAN)
    A=0.1928394/1395 (Korea4K)
    A=0.2/8 (GENOME_DK)
    A=0.2024433/116 (Vietnamese)
    A=0.2122621/16438 (TOMMO)
    A=0.2450199/123 (SGDP_PRJ)
    A=0.293666/612 (HGDP_Stanford)
    A=0.2962963/16 (Siberian)
    A=0.3008005/23673 (PAGE_STUDY)
    A=0.3096501/584 (HapMap)
    A=0.3180911/1593 (1000Genomes)
    A=0.3187071/2041 (1000Genomes_30X)
    A=0.3264347/86404 (TOPMED)
    A=0.3391753/50569 (GnomAD_genomes)
    A=0.3416667/205 (NorthernSweden)
    A=0.3427176/41061 (ExAC)
    A=0.3449946/4487 (GoESP)
    A=0.3462054/1551 (Estonian)
    A=0.3476268/1289 (TWINSUK)
    A=0.3518519/76 (Qatari)
    A=0.3573404/494637 (GnomAD_exomes)
    A=0.3621908/410 (Daghestan)
    A=0.3707415/370 (GoNL)
    A=0.3745318/200 (MGP)
    A=0.3782895/115 (FINRISK)
    A=0.3811624/1469 (ALSPAC)
    A=0.4166667/20 (PRJEB36033)
    HGVS:
    NC_000001.11:g.241879243A>G, NC_000001.11:g.241879243A>T, NC_000001.10:g.242042545A>G, NC_000001.10:g.242042545A>T, NG_029100.2:g.36053A>G, NG_029100.2:g.36053A>T, NM_130398.4:c.2009A>G, NM_130398.4:c.2009A>T, NM_130398.3:c.2009A>G, NM_130398.3:c.2009A>T, NM_006027.4:c.2009A>G, NM_006027.4:c.2009A>T, NM_003686.4:c.2009A>G, NM_003686.4:c.2009A>T, NM_001319224.2:c.2006A>G, NM_001319224.2:c.2006A>T, NM_001319224.1:c.2006A>G, NM_001319224.1:c.2006A>T, XM_006711840.3:c.2009A>G, XM_006711840.3:c.2009A>T, XM_006711840.2:c.2009A>G, XM_006711840.2:c.2009A>T, XM_006711840.1:c.2009A>G, XM_006711840.1:c.2009A>T, XM_011544323.3:c.2006A>G, XM_011544323.3:c.2006A>T, XM_011544323.2:c.2006A>G, XM_011544323.2:c.2006A>T, XM_011544323.1:c.2006A>G, XM_011544323.1:c.2006A>T, XM_011544321.3:c.2009A>G, XM_011544321.3:c.2009A>T, XM_011544321.2:c.2009A>G, XM_011544321.2:c.2009A>T, XM_011544321.1:c.2009A>G, XM_011544321.1:c.2009A>T, XM_011544324.3:c.1889A>G, XM_011544324.3:c.1889A>T, XM_011544324.2:c.1889A>G, XM_011544324.2:c.1889A>T, XM_011544324.1:c.1889A>G, XM_011544324.1:c.1889A>T, XM_017002793.3:c.1889A>G, XM_017002793.3:c.1889A>T, XM_017002793.2:c.1889A>G, XM_017002793.2:c.1889A>T, XM_017002793.1:c.1889A>G, XM_017002793.1:c.1889A>T, XM_011544322.2:c.2009A>G, XM_011544322.2:c.2009A>T, XM_011544322.1:c.2009A>G, XM_011544322.1:c.2009A>T, XM_011544325.2:c.1046A>G, XM_011544325.2:c.1046A>T, XM_011544325.1:c.1046A>G, XM_011544325.1:c.1046A>T, XM_047434104.1:c.2009A>G, XM_047434104.1:c.2009A>T, XM_047434112.1:c.2006A>G, XM_047434112.1:c.2006A>T, XM_047434106.1:c.2009A>G, XM_047434106.1:c.2009A>T, XM_047434107.1:c.2006A>G, XM_047434107.1:c.2006A>T, XM_047434108.1:c.2006A>G, XM_047434108.1:c.2006A>T, XM_047434139.1:c.1886A>G, XM_047434139.1:c.1886A>T, XM_047434121.1:c.1889A>G, XM_047434121.1:c.1889A>T, XM_047434150.1:c.1886A>G, XM_047434150.1:c.1886A>T, XM_047434129.1:c.1889A>G, XM_047434129.1:c.1889A>T, XM_047434155.1:c.1886A>G, XM_047434155.1:c.1886A>T, XM_047434130.1:c.1886A>G, XM_047434130.1:c.1886A>T, XM_047434160.1:c.1043A>G, XM_047434160.1:c.1043A>T, NP_569082.2:p.Glu670Gly, NP_569082.2:p.Glu670Val, NP_006018.4:p.Glu670Gly, NP_006018.4:p.Glu670Val, NP_003677.4:p.Glu670Gly, NP_003677.4:p.Glu670Val, NP_001306153.1:p.Glu669Gly, NP_001306153.1:p.Glu669Val, XP_006711903.1:p.Glu670Gly, XP_006711903.1:p.Glu670Val, XP_011542625.1:p.Glu669Gly, XP_011542625.1:p.Glu669Val, XP_011542623.1:p.Glu670Gly, XP_011542623.1:p.Glu670Val, XP_011542626.1:p.Glu630Gly, XP_011542626.1:p.Glu630Val, XP_016858282.1:p.Glu630Gly, XP_016858282.1:p.Glu630Val, XP_011542624.1:p.Glu670Gly, XP_011542624.1:p.Glu670Val, XP_011542627.1:p.Glu349Gly, XP_011542627.1:p.Glu349Val, XP_047290060.1:p.Glu670Gly, XP_047290060.1:p.Glu670Val, XP_047290068.1:p.Glu669Gly, XP_047290068.1:p.Glu669Val, XP_047290062.1:p.Glu670Gly, XP_047290062.1:p.Glu670Val, XP_047290063.1:p.Glu669Gly, XP_047290063.1:p.Glu669Val, XP_047290064.1:p.Glu669Gly, XP_047290064.1:p.Glu669Val, XP_047290095.1:p.Glu629Gly, XP_047290095.1:p.Glu629Val, XP_047290077.1:p.Glu630Gly, XP_047290077.1:p.Glu630Val, XP_047290106.1:p.Glu629Gly, XP_047290106.1:p.Glu629Val, XP_047290085.1:p.Glu630Gly, XP_047290085.1:p.Glu630Val, XP_047290111.1:p.Glu629Gly, XP_047290111.1:p.Glu629Val, XP_047290086.1:p.Glu629Gly, XP_047290086.1:p.Glu629Val, XP_047290116.1:p.Glu348Gly, XP_047290116.1:p.Glu348Val

    PubMed

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