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1.

rs2228570 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    12:47879112 (GRCh38)
    12:48272895 (GRCh37)
    Canonical SPDI:
    NC_000012.12:47879111:A:C,NC_000012.12:47879111:A:G,NC_000012.12:47879111:A:T
    Gene:
    VDR (Varview)
    Functional Consequence:
    initiator_codon_variant,missense_variant,coding_sequence_variant
    Clinical significance:
    benign,uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.3886963/91922 (ALFA)
    A=0.2222222/12 (Siberian)
    A=0.2365145/114 (SGDP_PRJ)
    A=0.2824074/61 (Qatari)
    A=0.3163405/24896 (PAGE_STUDY)
    A=0.3244147/194 (PharmGKB)
    A=0.3268491/4251 (GoESP)
    A=0.3284744/1645 (1000Genomes)
    A=0.3301062/2114 (1000Genomes_30X)
    A=0.3387004/50402 (GnomAD_genomes)
    A=0.3398655/89959 (TOPMED)
    A=0.362442/43891 (ExAC)
    A=0.3676463/28472 (TOMMO)
    A=0.3689139/197 (MGP)
    A=0.3717105/113 (FINRISK)
    A=0.3731188/1438 (ALSPAC)
    A=0.3751597/525700 (GnomAD_exomes)
    A=0.3816667/229 (NorthernSweden)
    A=0.3999461/1483 (TWINSUK)
    A=0.4040956/1184 (KOREAN)
    A=0.4166667/330 (PRJEB37584)
    A=0.4224495/3056 (Korea4K)
    A=0.45/18 (GENOME_DK)
    A=0.4638393/2078 (Estonian)
    A=0.4859813/104 (Vietnamese)
    G=0.4990876/1641 (PRJEB37766)
    HGVS:
    NC_000012.12:g.47879112A>C, NC_000012.12:g.47879112A>G, NC_000012.12:g.47879112A>T, NC_000012.11:g.48272895A>C, NC_000012.11:g.48272895A>G, NC_000012.11:g.48272895A>T, NG_008731.1:g.30920T>G, NG_008731.1:g.30920T>C, NG_008731.1:g.30920T>A, NM_000376.3:c.2T>G, NM_000376.3:c.2T>C, NM_000376.3:c.2T>A, NM_000376.2:c.2T>G, NM_000376.2:c.2T>C, NM_000376.2:c.2T>A, NM_001017536.2:c.152T>G, NM_001017536.2:c.152T>C, NM_001017536.2:c.152T>A, NM_001017536.1:c.152T>G, NM_001017536.1:c.152T>C, NM_001017536.1:c.152T>A, NM_001017535.2:c.2T>G, NM_001017535.2:c.2T>C, NM_001017535.2:c.2T>A, NM_001017535.1:c.2T>G, NM_001017535.1:c.2T>C, NM_001017535.1:c.2T>A, NM_001364085.2:c.2T>G, NM_001364085.2:c.2T>C, NM_001364085.2:c.2T>A, NM_001364085.1:c.2T>G, NM_001364085.1:c.2T>C, NM_001364085.1:c.2T>A, NM_001374661.1:c.2T>G, NM_001374661.1:c.2T>C, NM_001374661.1:c.2T>A, NM_001374662.1:c.2T>G, NM_001374662.1:c.2T>C, NM_001374662.1:c.2T>A, XM_024449178.2:c.71T>G, XM_024449178.2:c.71T>C, XM_024449178.2:c.71T>A, XM_024449178.1:c.71T>G, XM_024449178.1:c.71T>C, XM_024449178.1:c.71T>A, XM_047429500.1:c.2T>G, XM_047429500.1:c.2T>C, XM_047429500.1:c.2T>A, NP_000367.1:p.Met1Arg, NP_000367.1:p.Met1Thr, NP_000367.1:p.Met1Lys, NP_001017536.1:p.Met51Arg, NP_001017536.1:p.Met51Thr, NP_001017536.1:p.Met51Lys, NP_001017535.1:p.Met1Arg, NP_001017535.1:p.Met1Thr, NP_001017535.1:p.Met1Lys, NP_001351014.1:p.Met1Arg, NP_001351014.1:p.Met1Thr, NP_001351014.1:p.Met1Lys, NP_001361590.1:p.Met1Arg, NP_001361590.1:p.Met1Thr, NP_001361590.1:p.Met1Lys, NP_001361591.1:p.Met1Arg, NP_001361591.1:p.Met1Thr, NP_001361591.1:p.Met1Lys, XP_024304946.1:p.Met24Arg, XP_024304946.1:p.Met24Thr, XP_024304946.1:p.Met24Lys, XP_047285456.1:p.Met1Arg, XP_047285456.1:p.Met1Thr, XP_047285456.1:p.Met1Lys

    PubMed

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