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1.

rs6010717 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    20:64083430 (GRCh38)
    20:62714783 (GRCh37)
    Canonical SPDI:
    NC_000020.11:64083429:C:A,NC_000020.11:64083429:C:G,NC_000020.11:64083429:C:T
    Gene:
    OPRL1 (Varview), LKAAEAR1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.366093/17992 (ALFA)
    T=0./0 (KOREAN)
    G=0.183521/98 (MGP)
    C=0.25/12 (Siberian)
    C=0.267932/127 (SGDP_PRJ)
    C=0.295031/95 (HapMap)
    C=0.300526/2171 (Korea4K)
    C=0.301093/551 (Korea1K)
    C=0.307432/91 (FINRISK)
    C=0.322951/197 (Vietnamese)
    C=0.3349/25936 (TOMMO)
    C=0.35625/1596 (Estonian)
    C=0.361101/53820 (GnomAD_genomes)
    C=0.361268/95624 (TOPMED)
    C=0.368207/2358 (1000Genomes_30X)
    C=0.371591/4824 (GoESP)
    C=0.375399/1880 (1000Genomes)
    C=0.380643/1467 (ALSPAC)
    C=0.394283/1462 (TWINSUK)
    C=0.423333/254 (NorthernSweden)
    C=0.45/18 (GENOME_DK)
    C=0.458333/99 (Qatari)
    HGVS:
    NC_000020.11:g.64083430C>A, NC_000020.11:g.64083430C>G, NC_000020.11:g.64083430C>T, NC_000020.10:g.62714783C>A, NC_000020.10:g.62714783C>G, NC_000020.10:g.62714783C>T, NG_200844.1:g.40C>A, NG_200844.1:g.40C>G, NG_200844.1:g.40C>T, NM_001007125.3:c.678G>T, NM_001007125.3:c.678G>C, NM_001007125.3:c.678G>A, NM_001007125.2:c.678G>T, NM_001007125.2:c.678G>C, NM_001007125.2:c.678G>A, NM_001007125.1:c.678G>T, NM_001007125.1:c.678G>C, NM_001007125.1:c.678G>A, NM_001353425.2:c.*5G>T, NM_001353425.2:c.*5G>C, NM_001353425.2:c.*5G>A, NM_001353425.1:c.*5G>T, NM_001353425.1:c.*5G>C, NM_001353425.1:c.*5G>A, XM_024451850.2:c.678G>T, XM_024451850.2:c.678G>C, XM_024451850.2:c.678G>A, XM_024451850.1:c.678G>T, XM_024451850.1:c.678G>C, XM_024451850.1:c.678G>A, XM_024451849.2:c.678G>T, XM_024451849.2:c.678G>C, XM_024451849.2:c.678G>A, XM_024451849.1:c.678G>T, XM_024451849.1:c.678G>C, XM_024451849.1:c.678G>A, XM_047439963.1:c.*5G>T, XM_047439963.1:c.*5G>C, XM_047439963.1:c.*5G>A, NM_001386971.1:c.*5G>T, NM_001386971.1:c.*5G>C, NM_001386971.1:c.*5G>A

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