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1.

rs7735338 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    5:64801318 (GRCh38)
    5:64097145 (GRCh37)
    Canonical SPDI:
    NC_000005.10:64801317:C:A,NC_000005.10:64801317:C:G,NC_000005.10:64801317:C:T
    Gene:
    CWC27 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.3210747/15750 (ALFA)
    T=0./0 (KOREAN)
    G=0.2715356/145 (MGP)
    G=0.2738297/291851 (GnomAD_exomes)
    G=0.3131696/1403 (Estonian)
    G=0.3148148/68 (Qatari)
    G=0.3205484/26117 (ExAC)
    C=0.3224852/109 (SGDP_PRJ)
    G=0.3236473/323 (GoNL)
    G=0.3416667/205 (NorthernSweden)
    G=0.3454693/1281 (TWINSUK)
    G=0.3486512/4446 (GoESP)
    G=0.3486842/106 (FINRISK)
    G=0.35/14 (GENOME_DK)
    G=0.3502854/1350 (ALSPAC)
    G=0.3581586/94801 (TOPMED)
    G=0.3671644/54590 (GnomAD_genomes)
    G=0.3993902/131 (HapMap)
    C=0.4047619/17 (Siberian)
    G=0.4102124/2627 (1000Genomes_30X)
    G=0.4129393/2068 (1000Genomes)
    C=0.4642857/286 (Vietnamese)
    G=0.4660759/3366 (Korea4K)
    G=0.4798035/879 (Korea1K)
    G=0.4963948/38415 (TOMMO)
    HGVS:
    NC_000005.10:g.64801318C>A, NC_000005.10:g.64801318C>G, NC_000005.10:g.64801318C>T, NC_000005.9:g.64097145C>A, NC_000005.9:g.64097145C>G, NC_000005.9:g.64097145C>T, NM_005869.4:c.766C>A, NM_005869.4:c.766C>G, NM_005869.4:c.766C>T, NM_005869.3:c.766C>A, NM_005869.3:c.766C>G, NM_005869.3:c.766C>T, NM_005869.2:c.766C>A, NM_005869.2:c.766C>G, NM_005869.2:c.766C>T, NM_001318000.2:c.766C>A, NM_001318000.2:c.766C>G, NM_001318000.2:c.766C>T, NM_001318000.1:c.766C>A, NM_001318000.1:c.766C>G, NM_001318000.1:c.766C>T, NM_001297645.2:c.766C>A, NM_001297645.2:c.766C>G, NM_001297645.2:c.766C>T, NM_001297645.1:c.766C>A, NM_001297645.1:c.766C>G, NM_001297645.1:c.766C>T, NM_001297644.1:c.766C>A, NM_001297644.1:c.766C>G, NM_001297644.1:c.766C>T, NM_001364478.1:c.766C>A, NM_001364478.1:c.766C>G, NM_001364478.1:c.766C>T, NP_005860.2:p.Pro256Thr, NP_005860.2:p.Pro256Ala, NP_005860.2:p.Pro256Ser, NP_001304929.1:p.Pro256Thr, NP_001304929.1:p.Pro256Ala, NP_001304929.1:p.Pro256Ser, NP_001284574.1:p.Pro256Thr, NP_001284574.1:p.Pro256Ala, NP_001284574.1:p.Pro256Ser, NP_001284573.1:p.Pro256Thr, NP_001284573.1:p.Pro256Ala, NP_001284573.1:p.Pro256Ser, NP_001351407.1:p.Pro256Thr, NP_001351407.1:p.Pro256Ala, NP_001351407.1:p.Pro256Ser

    PubMed

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