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1.

rs3751143 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    12:121184501 (GRCh38)
    12:121622304 (GRCh37)
    Canonical SPDI:
    NC_000012.12:121184500:A:C,NC_000012.12:121184500:A:G,NC_000012.12:121184500:A:T
    Gene:
    P2RX7 (Varview), LOC105370032 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.189089/70990 (ALFA)
    C=0.10596/32 (FINRISK)
    C=0.143333/86 (NorthernSweden)
    C=0.148661/666 (Estonian)
    C=0.157561/23504 (GnomAD_genomes)
    C=0.158005/12429 (PAGE_STUDY)
    C=0.159662/42261 (TOPMED)
    C=0.170472/657 (ALSPAC)
    C=0.170712/633 (TWINSUK)
    C=0.175/7 (GENOME_DK)
    C=0.187266/100 (MGP)
    C=0.190289/22961 (ExAC)
    C=0.194389/194 (GoNL)
    C=0.195238/369 (HapMap)
    C=0.204872/1312 (1000Genomes_30X)
    C=0.207468/1039 (1000Genomes)
    C=0.218419/453 (HGDP_Stanford)
    C=0.24918/152 (Vietnamese)
    C=0.251263/199 (PRJEB37584)
    C=0.265529/778 (KOREAN)
    C=0.275505/1993 (Korea4K)
    C=0.296296/64 (Qatari)
    C=0.304607/23590 (TOMMO)
    C=0.333333/16 (PRJEB36033)
    A=0.428571/6 (Siberian)
    A=0.433333/91 (SGDP_PRJ)
    HGVS:
    NC_000012.12:g.121184501A>C, NC_000012.12:g.121184501A>G, NC_000012.12:g.121184501A>T, NC_000012.11:g.121622304A>C, NC_000012.11:g.121622304A>G, NC_000012.11:g.121622304A>T, NG_011471.2:g.56627A>C, NG_011471.2:g.56627A>G, NG_011471.2:g.56627A>T, NM_002562.6:c.1487A>C, NM_002562.6:c.1487A>G, NM_002562.6:c.1487A>T, NM_002562.5:c.1487A>C, NM_002562.5:c.1487A>G, NM_002562.5:c.1487A>T, NR_033948.2:n.1805A>C, NR_033948.2:n.1805A>G, NR_033948.2:n.1805A>T, NR_033948.1:n.1853A>C, NR_033948.1:n.1853A>G, NR_033948.1:n.1853A>T, NR_033949.2:n.1721A>C, NR_033949.2:n.1721A>G, NR_033949.2:n.1721A>T, NR_033949.1:n.1769A>C, NR_033949.1:n.1769A>G, NR_033949.1:n.1769A>T, NR_033950.2:n.1682A>C, NR_033950.2:n.1682A>G, NR_033950.2:n.1682A>T, NR_033950.1:n.1730A>C, NR_033950.1:n.1730A>G, NR_033950.1:n.1730A>T, NR_033951.2:n.1666A>C, NR_033951.2:n.1666A>G, NR_033951.2:n.1666A>T, NR_033951.1:n.1714A>C, NR_033951.1:n.1714A>G, NR_033951.1:n.1714A>T, NR_033952.2:n.1593A>C, NR_033952.2:n.1593A>G, NR_033952.2:n.1593A>T, NR_033952.1:n.1641A>C, NR_033952.1:n.1641A>G, NR_033952.1:n.1641A>T, NR_033953.2:n.1497A>C, NR_033953.2:n.1497A>G, NR_033953.2:n.1497A>T, NR_033953.1:n.1554A>C, NR_033953.1:n.1554A>G, NR_033953.1:n.1554A>T, NR_033954.2:n.1485A>C, NR_033954.2:n.1485A>G, NR_033954.2:n.1485A>T, NR_033954.1:n.1533A>C, NR_033954.1:n.1533A>G, NR_033954.1:n.1533A>T, NR_033955.2:n.1445A>C, NR_033955.2:n.1445A>G, NR_033955.2:n.1445A>T, NR_033955.1:n.1493A>C, NR_033955.1:n.1493A>G, NR_033955.1:n.1493A>T, NR_033956.2:n.1372A>C, NR_033956.2:n.1372A>G, NR_033956.2:n.1372A>T, NR_033956.1:n.1420A>C, NR_033956.1:n.1420A>G, NR_033956.1:n.1420A>T, XM_011538419.4:c.1175A>C, XM_011538419.4:c.1175A>G, XM_011538419.4:c.1175A>T, XM_011538419.3:c.1175A>C, XM_011538419.3:c.1175A>G, XM_011538419.3:c.1175A>T, XM_011538419.2:c.1175A>C, XM_011538419.2:c.1175A>G, XM_011538419.2:c.1175A>T, XM_011538419.1:c.1175A>C, XM_011538419.1:c.1175A>G, XM_011538419.1:c.1175A>T, XM_017019367.3:c.734A>C, XM_017019367.3:c.734A>G, XM_017019367.3:c.734A>T, XM_017019367.2:c.734A>C, XM_017019367.2:c.734A>G, XM_017019367.2:c.734A>T, XM_017019367.1:c.734A>C, XM_017019367.1:c.734A>G, XM_017019367.1:c.734A>T, NM_177427.2:c.*940A>C, NM_177427.2:c.*940A>G, NM_177427.2:c.*940A>T, XM_047428912.1:c.1220A>C, XM_047428912.1:c.1220A>G, XM_047428912.1:c.1220A>T, NM_177427.1:c.*940A>C, NM_177427.1:c.*940A>G, NM_177427.1:c.*940A>T, NM_177428.1:c.1487A>C, NM_177428.1:c.1487A>G, NM_177428.1:c.1487A>T, NP_002553.3:p.Glu496Ala, NP_002553.3:p.Glu496Gly, NP_002553.3:p.Glu496Val, XP_011536721.1:p.Glu392Ala, XP_011536721.1:p.Glu392Gly, XP_011536721.1:p.Glu392Val, XP_016874856.1:p.Glu245Ala, XP_016874856.1:p.Glu245Gly, XP_016874856.1:p.Glu245Val, XP_047284868.1:p.Glu407Ala, XP_047284868.1:p.Glu407Gly, XP_047284868.1:p.Glu407Val

    PubMed

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