U.S. flag

An official website of the United States government

Display Settings:

Format

Send to:

Choose Destination
1.

rs2476601 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    1:113834946 (GRCh38)
    1:114377568 (GRCh37)
    Canonical SPDI:
    NC_000001.11:113834945:A:G,NC_000001.11:113834945:A:T
    Gene:
    PTPN22 (Varview), AP4B1-AS1 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
    Clinical significance:
    risk-factor,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.0850579/28466 (ALFA)
    A=0./0 (Korea1K)
    A=0./0 (TOMMO)
    A=0./0 (Vietnamese)
    A=0.0002766/2 (Korea4K)
    A=0.0006826/2 (KOREAN)
    A=0.0158349/33 (HGDP_Stanford)
    A=0.016129/9 (SGDP_PRJ)
    A=0.0231481/5 (Qatari)
    A=0.0253234/1993 (PAGE_STUDY)
    A=0.0273562/137 (1000Genomes)
    A=0.0293567/188 (1000Genomes_30X)
    A=0.0301075/56 (HapMap)
    A=0.0352734/40 (Daghestan)
    A=0.0535714/3 (Siberian)
    A=0.0557671/14761 (TOPMED)
    A=0.0661442/9867 (GnomAD_genomes)
    A=0.0668429/8115 (ExAC)
    A=0.0697674/6 (PRJEB36033)
    A=0.088015/47 (MGP)
    A=0.0895535/122154 (GnomAD_exomes)
    A=0.0981964/98 (GoNL)
    A=0.1/4 (GENOME_DK)
    A=0.1009341/389 (ALSPAC)
    A=0.1027508/381 (TWINSUK)
    A=0.115/69 (NorthernSweden)
    A=0.1381579/42 (FINRISK)
    A=0.1433036/642 (Estonian)
    HGVS:
    NC_000001.11:g.113834946A>G, NC_000001.11:g.113834946A>T, NC_000001.10:g.114377568A>G, NC_000001.10:g.114377568A>T, NG_011432.2:g.41813T>C, NG_011432.2:g.41813T>A, NG_011432.1:g.41808C>T, NG_011432.1:g.41808C>A, NM_015967.8:c.1858T>C, NM_015967.8:c.1858T>A, NM_015967.7:c.1858C>T, NM_015967.7:c.1858C>A, NM_015967.6:c.1858C>T, NM_015967.6:c.1858C>A, NM_015967.5:c.1858C>T, NM_015967.5:c.1858C>A, NM_012411.6:c.1693T>C, NM_012411.6:c.1693T>A, NM_012411.5:c.1693C>T, NM_012411.5:c.1693C>A, NM_012411.4:c.1693C>T, NM_012411.4:c.1693C>A, NM_001193431.3:c.1858T>C, NM_001193431.3:c.1858T>A, NM_001193431.2:c.1858C>T, NM_001193431.2:c.1858C>A, NM_001193431.1:c.1858C>T, NM_001193431.1:c.1858C>A, NM_001308297.2:c.1786T>C, NM_001308297.2:c.1786T>A, NM_001308297.1:c.1786C>T, NM_001308297.1:c.1786C>A, XM_011541223.3:c.1858T>C, XM_011541223.3:c.1858T>A, XM_011541223.2:c.1858T>C, XM_011541223.2:c.1858T>A, XM_011541223.1:c.1858T>C, XM_011541223.1:c.1858T>A, XM_011541225.3:c.1786T>C, XM_011541225.3:c.1786T>A, XM_011541225.2:c.1786T>C, XM_011541225.2:c.1786T>A, XM_011541225.1:c.1786T>C, XM_011541225.1:c.1786T>A, XM_017001005.3:c.1513T>C, XM_017001005.3:c.1513T>A, XM_017001005.2:c.1513T>C, XM_017001005.2:c.1513T>A, XM_017001005.1:c.1513T>C, XM_017001005.1:c.1513T>A, XM_011541222.2:c.1858T>C, XM_011541222.2:c.1858T>A, XM_011541222.1:c.1858T>C, XM_011541222.1:c.1858T>A, XM_011541221.2:c.1780T>C, XM_011541221.2:c.1780T>A, XM_011541221.1:c.1780T>C, XM_011541221.1:c.1780T>A, XM_047417630.1:c.1708T>C, XM_047417630.1:c.1708T>A, XM_047417631.1:c.1786T>C, XM_047417631.1:c.1786T>A, XM_047417632.1:c.1780T>C, XM_047417632.1:c.1780T>A, NP_057051.4:p.Trp620Arg, NP_057051.4:p.Trp620Arg, NP_036543.4:p.Arg565Trp, NP_001180360.1:p.Arg620Trp, NP_001295226.1:p.Arg596Trp, XP_011539525.1:p.Trp620Arg, XP_011539525.1:p.Trp620Arg, XP_011539527.1:p.Trp596Arg, XP_011539527.1:p.Trp596Arg, XP_016856494.1:p.Trp505Arg, XP_016856494.1:p.Trp505Arg, XP_011539524.1:p.Trp620Arg, XP_011539524.1:p.Trp620Arg, XP_011539523.1:p.Trp594Arg, XP_011539523.1:p.Trp594Arg, XP_047273586.1:p.Trp570Arg, XP_047273586.1:p.Trp570Arg, XP_047273587.1:p.Trp596Arg, XP_047273587.1:p.Trp596Arg, XP_047273588.1:p.Trp594Arg, XP_047273588.1:p.Trp594Arg

    PubMed

    Supplemental Content

    Search details

    See more...

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...