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1.

rs71534278 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    10:68199417 (GRCh38)
    10:69959174 (GRCh37)
    Canonical SPDI:
    NC_000010.11:68199416:C:A,NC_000010.11:68199416:C:G,NC_000010.11:68199416:C:T
    Gene:
    MYPN (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Clinical significance:
    uncertain-significance,conflicting-interpretations-of-pathogenicity,likely-benign,pathogenic,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    T=0.000446/2 (Estonian)
    T=0.001348/5 (TWINSUK)
    T=0.001816/7 (ALSPAC)
    T=0.002076/27 (GoESP)
    T=0.002605/205 (PAGE_STUDY)
    T=0.002967/15 (1000Genomes)
    T=0.003034/368 (ExAC)
    T=0.003184/800 (GnomAD_exomes)
    T=0.00501/5 (GoNL)
    T=0.013889/3 (Qatari)
    C=0.5/2 (SGDP_PRJ)
    HGVS:
    NC_000010.11:g.68199417C>A, NC_000010.11:g.68199417C>G, NC_000010.11:g.68199417C>T, NC_000010.10:g.69959174C>A, NC_000010.10:g.69959174C>G, NC_000010.10:g.69959174C>T, NG_032118.1:g.98301C>A, NG_032118.1:g.98301C>G, NG_032118.1:g.98301C>T, NM_032578.4:c.3335C>A, NM_032578.4:c.3335C>G, NM_032578.4:c.3335C>T, NM_032578.3:c.3335C>A, NM_032578.3:c.3335C>G, NM_032578.3:c.3335C>T, NR_045663.4:n.3409C>A, NR_045663.4:n.3409C>G, NR_045663.4:n.3409C>T, NR_045663.3:n.3464C>A, NR_045663.3:n.3464C>G, NR_045663.3:n.3464C>T, NR_045662.4:n.2872C>A, NR_045662.4:n.2872C>G, NR_045662.4:n.2872C>T, NR_045662.3:n.2762C>A, NR_045662.3:n.2762C>G, NR_045662.3:n.2762C>T, NM_001256268.2:c.2453C>A, NM_001256268.2:c.2453C>G, NM_001256268.2:c.2453C>T, NM_001256268.1:c.2453C>A, NM_001256268.1:c.2453C>G, NM_001256268.1:c.2453C>T, NM_001256267.2:c.3335C>A, NM_001256267.2:c.3335C>G, NM_001256267.2:c.3335C>T, NM_001256267.1:c.3335C>A, NM_001256267.1:c.3335C>G, NM_001256267.1:c.3335C>T, XM_017016834.3:c.3335C>A, XM_017016834.3:c.3335C>G, XM_017016834.3:c.3335C>T, XM_017016834.2:c.3335C>A, XM_017016834.2:c.3335C>G, XM_017016834.2:c.3335C>T, XM_017016834.1:c.3335C>A, XM_017016834.1:c.3335C>G, XM_017016834.1:c.3335C>T, XM_017016833.2:c.3413C>A, XM_017016833.2:c.3413C>G, XM_017016833.2:c.3413C>T, XM_017016833.1:c.3413C>A, XM_017016833.1:c.3413C>G, XM_017016833.1:c.3413C>T, XM_047425878.1:c.2213C>A, XM_047425878.1:c.2213C>G, XM_047425878.1:c.2213C>T, XM_047425876.1:c.3413C>A, XM_047425876.1:c.3413C>G, XM_047425876.1:c.3413C>T, XM_047425879.1:c.2213C>A, XM_047425879.1:c.2213C>G, XM_047425879.1:c.2213C>T, XM_047425877.1:c.2213C>A, XM_047425877.1:c.2213C>G, XM_047425877.1:c.2213C>T, XM_047425880.1:c.2018C>A, XM_047425880.1:c.2018C>G, XM_047425880.1:c.2018C>T, NP_115967.2:p.Pro1112His, NP_115967.2:p.Pro1112Arg, NP_115967.2:p.Pro1112Leu, NP_001243197.1:p.Pro818His, NP_001243197.1:p.Pro818Arg, NP_001243197.1:p.Pro818Leu, NP_001243196.1:p.Pro1112His, NP_001243196.1:p.Pro1112Arg, NP_001243196.1:p.Pro1112Leu, XP_016872323.1:p.Pro1112His, XP_016872323.1:p.Pro1112Arg, XP_016872323.1:p.Pro1112Leu, XP_016872322.1:p.Pro1138His, XP_016872322.1:p.Pro1138Arg, XP_016872322.1:p.Pro1138Leu, XP_047281834.1:p.Pro738His, XP_047281834.1:p.Pro738Arg, XP_047281834.1:p.Pro738Leu, XP_047281832.1:p.Pro1138His, XP_047281832.1:p.Pro1138Arg, XP_047281832.1:p.Pro1138Leu, XP_047281835.1:p.Pro738His, XP_047281835.1:p.Pro738Arg, XP_047281835.1:p.Pro738Leu, XP_047281833.1:p.Pro738His, XP_047281833.1:p.Pro738Arg, XP_047281833.1:p.Pro738Leu, XP_047281836.1:p.Pro673His, XP_047281836.1:p.Pro673Arg, XP_047281836.1:p.Pro673Leu

    PubMedLitVar

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