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1.

rs2066844 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    16:50712015 (GRCh38)
    16:50745926 (GRCh37)
    Canonical SPDI:
    NC_000016.10:50712014:C:T
    Gene:
    NOD2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Clinical significance:
    association,conflicting-interpretations-of-pathogenicity,benign,not-provided,likely-benign,uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.042763/10086 (ALFA)
    T=0.0000258/2 (TOMMO)
    T=0.0116667/7 (NorthernSweden)
    T=0.0121457/12 (HapMap)
    T=0.0131579/4 (FINRISK)
    T=0.014377/72 (1000Genomes)
    T=0.0159574/3 (PharmGKB)
    T=0.0162399/104 (1000Genomes_30X)
    T=0.0194196/87 (Estonian)
    T=0.0227437/2704 (ExAC)
    T=0.0276044/4122 (GnomAD_genomes)
    T=0.0298689/7906 (TOPMED)
    T=0.0399298/55918 (GnomAD_exomes)
    T=0.0450902/45 (GoNL)
    T=0.0455771/169 (TWINSUK)
    T=0.048521/187 (ALSPAC)
    T=0.05/2 (GENOME_DK)
    T=0.125/2 (PRJEB36033)
    C=0.5/1 (Siberian)
    HGVS:
    NC_000016.10:g.50712015C>T, NC_000016.9:g.50745926C>T, NG_007508.1:g.19877C>T, NM_022162.3:c.2104C>T, NM_022162.2:c.2104C>T, NM_022162.1:c.2104C>T, NM_001293557.2:c.2023C>T, NM_001293557.1:c.2023C>T, NR_163434.1:n.2088C>T, NM_001370466.1:c.2023C>T, XM_006721242.5:c.2023C>T, XM_006721242.4:c.2023C>T, XM_006721242.3:c.2023C>T, XM_006721242.2:c.2023C>T, XM_006721242.1:c.2023C>T, XM_006721243.5:c.2023C>T, XM_006721243.4:c.2023C>T, XM_006721243.3:c.2023C>T, XM_006721243.2:c.2023C>T, XM_006721243.1:c.2023C>T, XM_011523260.4:c.2023C>T, XM_011523260.3:c.2023C>T, XM_011523260.2:c.2023C>T, XM_011523260.1:c.2023C>T, XM_011523261.3:c.2023C>T, XM_011523261.2:c.2023C>T, XM_011523261.1:c.2023C>T, XM_017023536.2:c.1438C>T, XM_017023536.1:c.1438C>T, XM_017023537.2:c.1438C>T, XM_017023537.1:c.1438C>T, XM_047434452.1:c.1600C>T, XM_047434454.1:c.1600C>T, XM_047434453.1:c.1600C>T, XR_007064894.1:n.2088C>T, XR_007064895.1:n.2088C>T, XM_047434455.1:c.2023C>T, XM_047434457.1:c.2023C>T, XM_047434456.1:c.2023C>T, NP_071445.1:p.Arg702Trp, NP_001280486.1:p.Arg675Trp, NP_001357395.1:p.Arg675Trp, XP_006721305.1:p.Arg675Trp, XP_006721306.1:p.Arg675Trp, XP_011521562.1:p.Arg675Trp, XP_011521563.1:p.Arg675Trp, XP_016879025.1:p.Arg480Trp, XP_016879026.1:p.Arg480Trp, XP_047290408.1:p.Arg534Trp, XP_047290410.1:p.Arg534Trp, XP_047290409.1:p.Arg534Trp, XP_047290411.1:p.Arg675Trp, XP_047290413.1:p.Arg675Trp, XP_047290412.1:p.Arg675Trp

    PubMed

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