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1.

rs1805010 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    16:27344882 (GRCh38)
    16:27356203 (GRCh37)
    Canonical SPDI:
    NC_000016.10:27344881:A:C,NC_000016.10:27344881:A:G,NC_000016.10:27344881:A:T
    Gene:
    IL4R (Varview)
    Functional Consequence:
    synonymous_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.4528412/146985 (ALFA)
    A=0.3258706/131 (SGDP_PRJ)
    G=0.3555094/171 (Vietnamese)
    A=0.3848458/29804 (TOMMO)
    G=0.3904018/1749 (Estonian)
    G=0.3951311/211 (MGP)
    G=0.409396/122 (FINRISK)
    A=0.425/17 (GENOME_DK)
    A=0.4279863/1254 (KOREAN)
    A=0.4411765/15 (Siberian)
    A=0.4475983/820 (Korea1K)
    G=0.4506472/1671 (TWINSUK)
    G=0.4512199/54631 (ExAC)
    G=0.451618/632808 (GnomAD_exomes)
    A=0.4517289/3266 (Korea4K)
    G=0.4517385/1741 (ALSPAC)
    G=0.4556527/2918 (1000Genomes_30X)
    G=0.4558423/67967 (GnomAD_genomes)
    G=0.4564696/2286 (1000Genomes)
    G=0.462963/100 (Qatari)
    G=0.4646643/122992 (TOPMED)
    G=0.4783333/287 (NorthernSweden)
    G=0.4871994/38327 (PAGE_STUDY)
    G=0.490982/490 (GoNL)
    A=0.4952229/933 (HapMap)
    HGVS:
    NC_000016.10:g.27344882A>C, NC_000016.10:g.27344882A>G, NC_000016.10:g.27344882A>T, NC_000016.9:g.27356203A>C, NC_000016.9:g.27356203A>G, NC_000016.9:g.27356203A>T, NG_012086.1:g.35953A>C, NG_012086.1:g.35953A>G, NG_012086.1:g.35953A>T, NM_000418.4:c.223A>C, NM_000418.4:c.223A>G, NM_000418.4:c.223A>T, NM_000418.3:c.223A>C, NM_000418.3:c.223A>G, NM_000418.3:c.223A>T, NM_001257407.2:c.178A>C, NM_001257407.2:c.178A>G, NM_001257407.2:c.178A>T, NM_001257407.1:c.178A>C, NM_001257407.1:c.178A>G, NM_001257407.1:c.178A>T, NM_001257406.2:c.223A>C, NM_001257406.2:c.223A>G, NM_001257406.2:c.223A>T, NM_001257406.1:c.223A>C, NM_001257406.1:c.223A>G, NM_001257406.1:c.223A>T, NM_001257997.2:c.-253A>C, NM_001257997.2:c.-253A>G, NM_001257997.2:c.-253A>T, NM_001257997.1:c.-253A>C, NM_001257997.1:c.-253A>G, NM_001257997.1:c.-253A>T, XM_011545827.3:c.223A>C, XM_011545827.3:c.223A>G, XM_011545827.3:c.223A>T, XM_011545827.2:c.223A>C, XM_011545827.2:c.223A>G, XM_011545827.2:c.223A>T, XM_011545827.1:c.223A>C, XM_011545827.1:c.223A>G, XM_011545827.1:c.223A>T, XM_011545826.3:c.223A>C, XM_011545826.3:c.223A>G, XM_011545826.3:c.223A>T, XM_011545826.2:c.223A>C, XM_011545826.2:c.223A>G, XM_011545826.2:c.223A>T, XM_011545826.1:c.223A>C, XM_011545826.1:c.223A>G, XM_011545826.1:c.223A>T, XM_011545828.3:c.-45A>C, XM_011545828.3:c.-45A>G, XM_011545828.3:c.-45A>T, XM_011545828.2:c.-45A>C, XM_011545828.2:c.-45A>G, XM_011545828.2:c.-45A>T, XM_011545828.1:c.-45A>C, XM_011545828.1:c.-45A>G, XM_011545828.1:c.-45A>T, XM_011545834.3:c.-49A>C, XM_011545834.3:c.-49A>G, XM_011545834.3:c.-49A>T, XM_011545834.2:c.-49A>C, XM_011545834.2:c.-49A>G, XM_011545834.2:c.-49A>T, XM_011545834.1:c.-49A>C, XM_011545834.1:c.-49A>G, XM_011545834.1:c.-49A>T, XM_011545825.2:c.223A>C, XM_011545825.2:c.223A>G, XM_011545825.2:c.223A>T, XM_011545825.1:c.223A>C, XM_011545825.1:c.223A>G, XM_011545825.1:c.223A>T, XM_017023211.2:c.223A>C, XM_017023211.2:c.223A>G, XM_017023211.2:c.223A>T, XM_017023211.1:c.223A>C, XM_017023211.1:c.223A>G, XM_017023211.1:c.223A>T, XM_011545833.2:c.78A>C, XM_011545833.2:c.78A>G, XM_011545833.2:c.78A>T, XM_011545833.1:c.78A>C, XM_011545833.1:c.78A>G, XM_011545833.1:c.78A>T, XM_047434066.1:c.298A>C, XM_047434066.1:c.298A>G, XM_047434066.1:c.298A>T, XM_047434067.1:c.223A>C, XM_047434067.1:c.223A>G, XM_047434067.1:c.223A>T, XM_047434068.1:c.78A>C, XM_047434068.1:c.78A>G, XM_047434068.1:c.78A>T, NM_001008699.1:c.223A>C, NM_001008699.1:c.223A>G, NM_001008699.1:c.223A>T, NP_000409.1:p.Ile75Leu, NP_000409.1:p.Ile75Val, NP_000409.1:p.Ile75Phe, NP_001244336.1:p.Ile60Leu, NP_001244336.1:p.Ile60Val, NP_001244336.1:p.Ile60Phe, NP_001244335.1:p.Ile75Leu, NP_001244335.1:p.Ile75Val, NP_001244335.1:p.Ile75Phe, XP_011544129.1:p.Ile75Leu, XP_011544129.1:p.Ile75Val, XP_011544129.1:p.Ile75Phe, XP_011544128.1:p.Ile75Leu, XP_011544128.1:p.Ile75Val, XP_011544128.1:p.Ile75Phe, XP_011544127.1:p.Ile75Leu, XP_011544127.1:p.Ile75Val, XP_011544127.1:p.Ile75Phe, XP_016878700.1:p.Ile75Leu, XP_016878700.1:p.Ile75Val, XP_016878700.1:p.Ile75Phe, XP_047290022.1:p.Ile100Leu, XP_047290022.1:p.Ile100Val, XP_047290022.1:p.Ile100Phe, XP_047290023.1:p.Ile75Leu, XP_047290023.1:p.Ile75Val, XP_047290023.1:p.Ile75Phe

    PubMed

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