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Items: 1 to 20 of 1257

1.

rs1491362195 has merged into rs59742556 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
    Chromosome:
    17:48552582 (GRCh38)
    17:46629944 (GRCh37)
    Canonical SPDI:
    NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:48552571:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
    Gene:
    HOXB3 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCCCCCCC=0./0 (ALFA)
    C=0.4603/2305 (1000Genomes)
    HGVS:
    NC_000017.11:g.48552582_48552583del, NC_000017.11:g.48552583del, NC_000017.11:g.48552583dup, NC_000017.11:g.48552582_48552583dup, NC_000017.11:g.48552581_48552583dup, NC_000017.11:g.48552580_48552583dup, NC_000017.11:g.48552579_48552583dup, NC_000017.11:g.48552578_48552583dup, NC_000017.11:g.48552577_48552583dup, NC_000017.11:g.48552576_48552583dup, NC_000017.11:g.48552575_48552583dup, NC_000017.11:g.48552574_48552583dup, NC_000017.11:g.48552573_48552583dup, NC_000017.11:g.48552572_48552583dup, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000017.11:g.48552583_48552584insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629944_46629945del, NC_000017.10:g.46629945del, NC_000017.10:g.46629945dup, NC_000017.10:g.46629944_46629945dup, NC_000017.10:g.46629943_46629945dup, NC_000017.10:g.46629942_46629945dup, NC_000017.10:g.46629941_46629945dup, NC_000017.10:g.46629940_46629945dup, NC_000017.10:g.46629939_46629945dup, NC_000017.10:g.46629938_46629945dup, NC_000017.10:g.46629937_46629945dup, NC_000017.10:g.46629936_46629945dup, NC_000017.10:g.46629935_46629945dup, NC_000017.10:g.46629934_46629945dup, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.46629945_46629946insCCCCCCCCCCCCCCCCCCCCCCCCCC, NM_002146.4:c.-99_-98del, NM_002146.4:c.-98del, NM_002146.4:c.-98dup, NM_002146.4:c.-99_-98dup, NM_002146.4:c.-100_-98dup, NM_002146.4:c.-101_-98dup, NM_002146.4:c.-102_-98dup, NM_002146.4:c.-103_-98dup, NM_002146.4:c.-104_-98dup, NM_002146.4:c.-105_-98dup, NM_002146.4:c.-106_-98dup, NM_002146.4:c.-107_-98dup, NM_002146.4:c.-108_-98dup, NM_002146.4:c.-109_-98dup, NM_002146.4:c.-98_-97insGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002146.4:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-99_-98del, XM_024450737.2:c.-98del, XM_024450737.2:c.-98dup, XM_024450737.2:c.-99_-98dup, XM_024450737.2:c.-100_-98dup, XM_024450737.2:c.-101_-98dup, XM_024450737.2:c.-102_-98dup, XM_024450737.2:c.-103_-98dup, XM_024450737.2:c.-104_-98dup, XM_024450737.2:c.-105_-98dup, XM_024450737.2:c.-106_-98dup, XM_024450737.2:c.-107_-98dup, XM_024450737.2:c.-108_-98dup, XM_024450737.2:c.-109_-98dup, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.2:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-99_-98del, XM_024450737.1:c.-98del, XM_024450737.1:c.-98dup, XM_024450737.1:c.-99_-98dup, XM_024450737.1:c.-100_-98dup, XM_024450737.1:c.-101_-98dup, XM_024450737.1:c.-102_-98dup, XM_024450737.1:c.-103_-98dup, XM_024450737.1:c.-104_-98dup, XM_024450737.1:c.-105_-98dup, XM_024450737.1:c.-106_-98dup, XM_024450737.1:c.-107_-98dup, XM_024450737.1:c.-108_-98dup, XM_024450737.1:c.-109_-98dup, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGG, XM_024450737.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-99_-98del, XM_047435902.1:c.-98del, XM_047435902.1:c.-98dup, XM_047435902.1:c.-99_-98dup, XM_047435902.1:c.-100_-98dup, XM_047435902.1:c.-101_-98dup, XM_047435902.1:c.-102_-98dup, XM_047435902.1:c.-103_-98dup, XM_047435902.1:c.-104_-98dup, XM_047435902.1:c.-105_-98dup, XM_047435902.1:c.-106_-98dup, XM_047435902.1:c.-107_-98dup, XM_047435902.1:c.-108_-98dup, XM_047435902.1:c.-109_-98dup, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435902.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-99_-98del, XM_047435903.1:c.-98del, XM_047435903.1:c.-98dup, XM_047435903.1:c.-99_-98dup, XM_047435903.1:c.-100_-98dup, XM_047435903.1:c.-101_-98dup, XM_047435903.1:c.-102_-98dup, XM_047435903.1:c.-103_-98dup, XM_047435903.1:c.-104_-98dup, XM_047435903.1:c.-105_-98dup, XM_047435903.1:c.-106_-98dup, XM_047435903.1:c.-107_-98dup, XM_047435903.1:c.-108_-98dup, XM_047435903.1:c.-109_-98dup, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435903.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-99_-98del, XM_047435904.1:c.-98del, XM_047435904.1:c.-98dup, XM_047435904.1:c.-99_-98dup, XM_047435904.1:c.-100_-98dup, XM_047435904.1:c.-101_-98dup, XM_047435904.1:c.-102_-98dup, XM_047435904.1:c.-103_-98dup, XM_047435904.1:c.-104_-98dup, XM_047435904.1:c.-105_-98dup, XM_047435904.1:c.-106_-98dup, XM_047435904.1:c.-107_-98dup, XM_047435904.1:c.-108_-98dup, XM_047435904.1:c.-109_-98dup, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047435904.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-99_-98del, NM_001384749.1:c.-98del, NM_001384749.1:c.-98dup, NM_001384749.1:c.-99_-98dup, NM_001384749.1:c.-100_-98dup, NM_001384749.1:c.-101_-98dup, NM_001384749.1:c.-102_-98dup, NM_001384749.1:c.-103_-98dup, NM_001384749.1:c.-104_-98dup, NM_001384749.1:c.-105_-98dup, NM_001384749.1:c.-106_-98dup, NM_001384749.1:c.-107_-98dup, NM_001384749.1:c.-108_-98dup, NM_001384749.1:c.-109_-98dup, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001384749.1:c.-98_-97insGGGGGGGGGGGGGGGGGGGGGGGGGG

    2.

    rs1491313615 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,G,T [Show Flanks]
      Chromosome:
      17:48552572 (GRCh38)
      17:46629935 (GRCh37)
      Canonical SPDI:
      NC_000017.11:48552572::A,NC_000017.11:48552572::G,NC_000017.11:48552572::T
      Gene:
      HOXB3 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000026/1 (GnomAD)
      T=0.000196/2 (TOMMO)
      HGVS:
      NC_000017.11:g.48552572_48552573insA, NC_000017.11:g.48552572_48552573insG, NC_000017.11:g.48552572_48552573insT, NC_000017.10:g.46629934_46629935insA, NC_000017.10:g.46629934_46629935insG, NC_000017.10:g.46629934_46629935insT, NM_002146.4:c.-99_-98insT, NM_002146.4:c.-99_-98insC, NM_002146.4:c.-99_-98insA, XM_024450737.2:c.-99_-98insT, XM_024450737.2:c.-99_-98insC, XM_024450737.2:c.-99_-98insA, XM_024450737.1:c.-99_-98insT, XM_024450737.1:c.-99_-98insC, XM_024450737.1:c.-99_-98insA, XM_047435902.1:c.-99_-98insT, XM_047435902.1:c.-99_-98insC, XM_047435902.1:c.-99_-98insA, XM_047435903.1:c.-99_-98insT, XM_047435903.1:c.-99_-98insC, XM_047435903.1:c.-99_-98insA, XM_047435904.1:c.-99_-98insT, XM_047435904.1:c.-99_-98insC, XM_047435904.1:c.-99_-98insA, NM_001384749.1:c.-99_-98insT, NM_001384749.1:c.-99_-98insC, NM_001384749.1:c.-99_-98insA

      3.

      rs1490806561 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:48550707 (GRCh38)
        17:46628069 (GRCh37)
        Canonical SPDI:
        NC_000017.11:48550706:T:C
        Gene:
        HOXB3 (Varview), HOXB-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000005/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        NC_000017.11:g.48550707T>C, NC_000017.10:g.46628069T>C, NM_002146.4:c.923A>G, XM_011524708.4:c.527A>G, XM_011524708.3:c.527A>G, XM_011524708.2:c.1094A>G, XM_011524708.1:c.1094A>G, XM_011524726.3:c.704A>G, XM_011524726.2:c.704A>G, XM_011524726.1:c.704A>G, XM_017024560.2:c.1364A>G, XM_017024560.1:c.1364A>G, XM_024450737.2:c.923A>G, XM_024450737.1:c.923A>G, NM_001330322.2:c.704A>G, NM_001330322.1:c.704A>G, XM_047435901.1:c.1364A>G, XM_047435900.1:c.1364A>G, XM_047435899.1:c.1364A>G, XM_047435902.1:c.923A>G, XM_047435903.1:c.923A>G, XM_047435904.1:c.920A>G, XM_047435906.1:c.527A>G, XM_047435907.1:c.704A>G, NM_001384749.1:c.923A>G, NM_001384747.1:c.923A>G, NM_001384750.1:c.704A>G, NM_001330323.1:c.527A>G, NP_002137.4:p.Tyr308Cys, XP_011523010.2:p.Tyr176Cys, XP_011523028.1:p.Tyr235Cys, XP_016880049.1:p.Tyr455Cys, XP_024306505.1:p.Tyr308Cys, NP_001317251.1:p.Tyr235Cys, XP_047291857.1:p.Tyr455Cys, XP_047291856.1:p.Tyr455Cys, XP_047291855.1:p.Tyr455Cys, XP_047291858.1:p.Tyr308Cys, XP_047291859.1:p.Tyr308Cys, XP_047291860.1:p.Tyr307Cys, XP_047291862.1:p.Tyr176Cys, XP_047291863.1:p.Tyr235Cys, NP_001371678.1:p.Tyr308Cys, NP_001371676.1:p.Tyr308Cys, NP_001371679.1:p.Tyr235Cys, NP_001317252.1:p.Tyr176Cys

        4.

        rs1490315086 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:48550515 (GRCh38)
          17:46627877 (GRCh37)
          Canonical SPDI:
          NC_000017.11:48550514:C:T
          Gene:
          HOXB3 (Varview), HOXB-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000005/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000017.11:g.48550515C>T, NC_000017.10:g.46627877C>T, NM_002146.4:c.1115G>A, XM_011524708.4:c.719G>A, XM_011524708.3:c.719G>A, XM_011524708.2:c.1286G>A, XM_011524708.1:c.1286G>A, XM_011524726.3:c.896G>A, XM_011524726.2:c.896G>A, XM_011524726.1:c.896G>A, XM_017024560.2:c.1556G>A, XM_017024560.1:c.1556G>A, XM_024450737.2:c.1115G>A, XM_024450737.1:c.1115G>A, NM_001330322.2:c.896G>A, NM_001330322.1:c.896G>A, XM_047435901.1:c.1556G>A, XM_047435900.1:c.1556G>A, XM_047435899.1:c.1556G>A, XM_047435902.1:c.1115G>A, XM_047435903.1:c.1115G>A, XM_047435904.1:c.1112G>A, XM_047435906.1:c.719G>A, XM_047435907.1:c.896G>A, NM_001384749.1:c.1115G>A, NM_001384747.1:c.1115G>A, NM_001384750.1:c.896G>A, NM_001330323.1:c.719G>A, NP_002137.4:p.Gly372Asp, XP_011523010.2:p.Gly240Asp, XP_011523028.1:p.Gly299Asp, XP_016880049.1:p.Gly519Asp, XP_024306505.1:p.Gly372Asp, NP_001317251.1:p.Gly299Asp, XP_047291857.1:p.Gly519Asp, XP_047291856.1:p.Gly519Asp, XP_047291855.1:p.Gly519Asp, XP_047291858.1:p.Gly372Asp, XP_047291859.1:p.Gly372Asp, XP_047291860.1:p.Gly371Asp, XP_047291862.1:p.Gly240Asp, XP_047291863.1:p.Gly299Asp, NP_001371678.1:p.Gly372Asp, NP_001371676.1:p.Gly372Asp, NP_001371679.1:p.Gly299Asp, NP_001317252.1:p.Gly240Asp

          5.

          rs1490251788 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:48550518 (GRCh38)
            17:46627880 (GRCh37)
            Canonical SPDI:
            NC_000017.11:48550517:T:C
            Gene:
            HOXB3 (Varview), HOXB-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000017.11:g.48550518T>C, NC_000017.10:g.46627880T>C, NM_002146.4:c.1112A>G, XM_011524708.4:c.716A>G, XM_011524708.3:c.716A>G, XM_011524708.2:c.1283A>G, XM_011524708.1:c.1283A>G, XM_011524726.3:c.893A>G, XM_011524726.2:c.893A>G, XM_011524726.1:c.893A>G, XM_017024560.2:c.1553A>G, XM_017024560.1:c.1553A>G, XM_024450737.2:c.1112A>G, XM_024450737.1:c.1112A>G, NM_001330322.2:c.893A>G, NM_001330322.1:c.893A>G, XM_047435901.1:c.1553A>G, XM_047435900.1:c.1553A>G, XM_047435899.1:c.1553A>G, XM_047435902.1:c.1112A>G, XM_047435903.1:c.1112A>G, XM_047435904.1:c.1109A>G, XM_047435906.1:c.716A>G, XM_047435907.1:c.893A>G, NM_001384749.1:c.1112A>G, NM_001384747.1:c.1112A>G, NM_001384750.1:c.893A>G, NM_001330323.1:c.716A>G, NP_002137.4:p.Tyr371Cys, XP_011523010.2:p.Tyr239Cys, XP_011523028.1:p.Tyr298Cys, XP_016880049.1:p.Tyr518Cys, XP_024306505.1:p.Tyr371Cys, NP_001317251.1:p.Tyr298Cys, XP_047291857.1:p.Tyr518Cys, XP_047291856.1:p.Tyr518Cys, XP_047291855.1:p.Tyr518Cys, XP_047291858.1:p.Tyr371Cys, XP_047291859.1:p.Tyr371Cys, XP_047291860.1:p.Tyr370Cys, XP_047291862.1:p.Tyr239Cys, XP_047291863.1:p.Tyr298Cys, NP_001371678.1:p.Tyr371Cys, NP_001371676.1:p.Tyr371Cys, NP_001371679.1:p.Tyr298Cys, NP_001317252.1:p.Tyr239Cys

            6.

            rs1489538449 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              17:48552335 (GRCh38)
              17:46629697 (GRCh37)
              Canonical SPDI:
              NC_000017.11:48552334:T:A
              Gene:
              HOXB3 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.48552335T>A, NC_000017.10:g.46629697T>A, NM_002146.4:c.140A>T, XM_011524726.3:c.-80A>T, XM_011524726.2:c.-80A>T, XM_011524726.1:c.-80A>T, XM_017024560.2:c.581A>T, XM_017024560.1:c.581A>T, XM_024450737.2:c.140A>T, XM_024450737.1:c.140A>T, NM_001330322.2:c.-80A>T, NM_001330322.1:c.-80A>T, XM_047435901.1:c.581A>T, XM_047435900.1:c.581A>T, XM_047435899.1:c.581A>T, XM_047435902.1:c.140A>T, XM_047435903.1:c.140A>T, XM_047435904.1:c.140A>T, XM_047435907.1:c.-80A>T, NM_001384749.1:c.140A>T, NM_001384747.1:c.140A>T, NM_001384750.1:c.-80A>T, NP_002137.4:p.Tyr47Phe, XP_016880049.1:p.Tyr194Phe, XP_024306505.1:p.Tyr47Phe, XP_047291857.1:p.Tyr194Phe, XP_047291856.1:p.Tyr194Phe, XP_047291855.1:p.Tyr194Phe, XP_047291858.1:p.Tyr47Phe, XP_047291859.1:p.Tyr47Phe, XP_047291860.1:p.Tyr47Phe, NP_001371678.1:p.Tyr47Phe, NP_001371676.1:p.Tyr47Phe

              7.

              rs1489278662 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:48550308 (GRCh38)
                17:46627670 (GRCh37)
                Canonical SPDI:
                NC_000017.11:48550307:C:T
                Gene:
                HOXB3 (Varview), HOXB-AS1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1489241634 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GCG [Show Flanks]
                  Chromosome:
                  17:48552442 (GRCh38)
                  17:46629805 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:48552442:GCGGCG:GCGGCGGCG
                  Gene:
                  HOXB3 (Varview)
                  Functional Consequence:
                  inframe_insertion,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GCGGCGGCG=0.000071/1 (ALFA)
                  GCG=0.000011/3 (TOPMED)
                  GCG=0.000017/4 (GnomAD_exomes)
                  GCG=0.000021/3 (GnomAD)
                  HGVS:

                  9.

                  rs1488592199 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    17:48552568 (GRCh38)
                    17:46629931 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:48552568:GG:GGG
                    Gene:
                    HOXB3 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GGG=0.00017/2 (ALFA)
                    G=0.00035/33 (GnomAD)
                    G=0.00036/6 (TOMMO)
                    HGVS:

                    10.

                    rs1488239525 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:48549898 (GRCh38)
                      17:46627260 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:48549897:G:A
                      Gene:
                      HOXB3 (Varview), HOXB-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1487362158 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        17:48549786 (GRCh38)
                        17:46627148 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:48549785:T:G
                        Gene:
                        HOXB3 (Varview), HOXB-AS1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1487250479 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          17:48552072 (GRCh38)
                          17:46629434 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:48552071:C:G
                          Gene:
                          HOXB3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.48552072C>G, NC_000017.10:g.46629434C>G, NM_002146.4:c.403G>C, XM_011524708.4:c.7G>C, XM_011524708.3:c.7G>C, XM_011524708.2:c.574G>C, XM_011524708.1:c.574G>C, XM_011524726.3:c.184G>C, XM_011524726.2:c.184G>C, XM_011524726.1:c.184G>C, XM_017024560.2:c.844G>C, XM_017024560.1:c.844G>C, XM_024450737.2:c.403G>C, XM_024450737.1:c.403G>C, NM_001330322.2:c.184G>C, NM_001330322.1:c.184G>C, XM_047435901.1:c.844G>C, XM_047435900.1:c.844G>C, XM_047435899.1:c.844G>C, XM_047435902.1:c.403G>C, XM_047435903.1:c.403G>C, XM_047435904.1:c.403G>C, XM_047435906.1:c.7G>C, XM_047435907.1:c.184G>C, NM_001384749.1:c.403G>C, NM_001384747.1:c.403G>C, NM_001384750.1:c.184G>C, NM_001330323.1:c.7G>C, NP_002137.4:p.Glu135Gln, XP_011523010.2:p.Glu3Gln, XP_011523028.1:p.Glu62Gln, XP_016880049.1:p.Glu282Gln, XP_024306505.1:p.Glu135Gln, NP_001317251.1:p.Glu62Gln, XP_047291857.1:p.Glu282Gln, XP_047291856.1:p.Glu282Gln, XP_047291855.1:p.Glu282Gln, XP_047291858.1:p.Glu135Gln, XP_047291859.1:p.Glu135Gln, XP_047291860.1:p.Glu135Gln, XP_047291862.1:p.Glu3Gln, XP_047291863.1:p.Glu62Gln, NP_001371678.1:p.Glu135Gln, NP_001371676.1:p.Glu135Gln, NP_001371679.1:p.Glu62Gln, NP_001317252.1:p.Glu3Gln

                          13.

                          rs1486980783 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:48550411 (GRCh38)
                            17:46627773 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:48550410:A:G
                            Gene:
                            HOXB3 (Varview), HOXB-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000017.11:g.48550411A>G, NC_000017.10:g.46627773A>G, NM_002146.4:c.1219T>C, XM_011524708.4:c.823T>C, XM_011524708.3:c.823T>C, XM_011524708.2:c.1390T>C, XM_011524708.1:c.1390T>C, XM_011524726.3:c.1000T>C, XM_011524726.2:c.1000T>C, XM_011524726.1:c.1000T>C, XM_017024560.2:c.1660T>C, XM_017024560.1:c.1660T>C, XM_024450737.2:c.1219T>C, XM_024450737.1:c.1219T>C, NM_001330322.2:c.1000T>C, NM_001330322.1:c.1000T>C, XM_047435901.1:c.1660T>C, XM_047435900.1:c.1660T>C, XM_047435899.1:c.1660T>C, XM_047435902.1:c.1219T>C, XM_047435903.1:c.1219T>C, XM_047435904.1:c.1216T>C, XM_047435906.1:c.823T>C, XM_047435907.1:c.1000T>C, NM_001384749.1:c.1219T>C, NM_001384747.1:c.1219T>C, NM_001384750.1:c.1000T>C, NM_001330323.1:c.823T>C, NP_002137.4:p.Tyr407His, XP_011523010.2:p.Tyr275His, XP_011523028.1:p.Tyr334His, XP_016880049.1:p.Tyr554His, XP_024306505.1:p.Tyr407His, NP_001317251.1:p.Tyr334His, XP_047291857.1:p.Tyr554His, XP_047291856.1:p.Tyr554His, XP_047291855.1:p.Tyr554His, XP_047291858.1:p.Tyr407His, XP_047291859.1:p.Tyr407His, XP_047291860.1:p.Tyr406His, XP_047291862.1:p.Tyr275His, XP_047291863.1:p.Tyr334His, NP_001371678.1:p.Tyr407His, NP_001371676.1:p.Tyr407His, NP_001371679.1:p.Tyr334His, NP_001317252.1:p.Tyr275His

                            14.

                            rs1485327051 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              17:48573860 (GRCh38)
                              17:46651222 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:48573859:G:A,NC_000017.11:48573859:G:T
                              Gene:
                              HOXB3 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000015/2 (GnomAD_exomes)
                              A=0.000029/4 (GnomAD)
                              HGVS:
                              NC_000017.11:g.48573860G>A, NC_000017.11:g.48573860G>T, NC_000017.10:g.46651222G>A, NC_000017.10:g.46651222G>T, NM_002146.4:c.-270C>T, NM_002146.4:c.-270C>A, XM_017024560.2:c.-9180C>T, XM_017024560.2:c.-9180C>A, XM_017024560.1:c.-9180C>T, XM_017024560.1:c.-9180C>A, XM_024450737.2:c.-2478C>T, XM_024450737.2:c.-2478C>A, XM_024450737.1:c.-2478C>T, XM_024450737.1:c.-2478C>A, NM_001330322.2:c.-217C>T, NM_001330322.2:c.-217C>A, NM_001330322.1:c.-217C>T, NM_001330322.1:c.-217C>A, XM_047435901.1:c.-9180C>T, XM_047435901.1:c.-9180C>A, XM_047435900.1:c.-9180C>T, XM_047435900.1:c.-9180C>A, XM_047435899.1:c.-9180C>T, XM_047435899.1:c.-9180C>A, XM_047435902.1:c.-8033C>T, XM_047435902.1:c.-8033C>A, XM_047435904.1:c.-3168C>T, XM_047435904.1:c.-3168C>A, XM_047435906.1:c.-3022C>T, XM_047435906.1:c.-3022C>A, XM_047435907.1:c.-217C>T, XM_047435907.1:c.-217C>A, NM_001384749.1:c.-270C>T, NM_001384749.1:c.-270C>A, NM_001330323.1:c.-124C>T, NM_001330323.1:c.-124C>A

                              15.

                              rs1482519862 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                17:48552257 (GRCh38)
                                17:46629619 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:48552256:C:A
                                Gene:
                                HOXB3 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000017.11:g.48552257C>A, NC_000017.10:g.46629619C>A, NM_002146.4:c.218G>T, XM_011524726.3:c.-2G>T, XM_011524726.2:c.-2G>T, XM_011524726.1:c.-2G>T, XM_017024560.2:c.659G>T, XM_017024560.1:c.659G>T, XM_024450737.2:c.218G>T, XM_024450737.1:c.218G>T, NM_001330322.2:c.-2G>T, NM_001330322.1:c.-2G>T, XM_047435901.1:c.659G>T, XM_047435900.1:c.659G>T, XM_047435899.1:c.659G>T, XM_047435902.1:c.218G>T, XM_047435903.1:c.218G>T, XM_047435904.1:c.218G>T, XM_047435907.1:c.-2G>T, NM_001384749.1:c.218G>T, NM_001384747.1:c.218G>T, NM_001384750.1:c.-2G>T, NP_002137.4:p.Cys73Phe, XP_016880049.1:p.Cys220Phe, XP_024306505.1:p.Cys73Phe, XP_047291857.1:p.Cys220Phe, XP_047291856.1:p.Cys220Phe, XP_047291855.1:p.Cys220Phe, XP_047291858.1:p.Cys73Phe, XP_047291859.1:p.Cys73Phe, XP_047291860.1:p.Cys73Phe, NP_001371678.1:p.Cys73Phe, NP_001371676.1:p.Cys73Phe

                                16.

                                rs1481912552 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:48550589 (GRCh38)
                                  17:46627951 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:48550588:C:T
                                  Gene:
                                  HOXB3 (Varview), HOXB-AS1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1481769265 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    17:48550230 (GRCh38)
                                    17:46627592 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:48550229:T:A
                                    Gene:
                                    HOXB3 (Varview), HOXB-AS1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000113/30 (TOPMED)
                                    A=0.000121/17 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1481594498 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      17:48550274 (GRCh38)
                                      17:46627636 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:48550273:C:G,NC_000017.11:48550273:C:T
                                      Gene:
                                      HOXB3 (Varview), HOXB-AS1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000017.11:g.48550274C>G, NC_000017.11:g.48550274C>T, NC_000017.10:g.46627636C>G, NC_000017.10:g.46627636C>T, NM_002146.4:c.*60G>C, NM_002146.4:c.*60G>A, XM_011524708.4:c.*60G>C, XM_011524708.4:c.*60G>A, XM_011524708.3:c.*60G>C, XM_011524708.3:c.*60G>A, XM_011524708.2:c.*60G>C, XM_011524708.2:c.*60G>A, XM_011524708.1:c.*60G>C, XM_011524708.1:c.*60G>A, XM_011524726.3:c.*60G>C, XM_011524726.3:c.*60G>A, XM_011524726.2:c.*60G>C, XM_011524726.2:c.*60G>A, XM_011524726.1:c.*60G>C, XM_011524726.1:c.*60G>A, XM_017024560.2:c.*60G>C, XM_017024560.2:c.*60G>A, XM_017024560.1:c.*60G>C, XM_017024560.1:c.*60G>A, XM_024450737.2:c.*60G>C, XM_024450737.2:c.*60G>A, XM_024450737.1:c.*60G>C, XM_024450737.1:c.*60G>A, NM_001330322.2:c.*60G>C, NM_001330322.2:c.*60G>A, NM_001330322.1:c.*60G>C, NM_001330322.1:c.*60G>A, XM_047435901.1:c.*60G>C, XM_047435901.1:c.*60G>A, XM_047435900.1:c.*60G>C, XM_047435900.1:c.*60G>A, XM_047435899.1:c.*60G>C, XM_047435899.1:c.*60G>A, XM_047435902.1:c.*60G>C, XM_047435902.1:c.*60G>A, XM_047435903.1:c.*60G>C, XM_047435903.1:c.*60G>A, XM_047435904.1:c.*60G>C, XM_047435904.1:c.*60G>A, XM_047435906.1:c.*60G>C, XM_047435906.1:c.*60G>A, XM_047435907.1:c.*60G>C, XM_047435907.1:c.*60G>A, NM_001384749.1:c.*60G>C, NM_001384749.1:c.*60G>A, NM_001384747.1:c.*60G>C, NM_001384747.1:c.*60G>A, NM_001384750.1:c.*60G>C, NM_001384750.1:c.*60G>A, NM_001330323.1:c.*60G>C, NM_001330323.1:c.*60G>A

                                      19.

                                      rs1480474700 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:48555563 (GRCh38)
                                        17:46632925 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:48555562:A:G
                                        Gene:
                                        HOXB3 (Varview), HOXB-AS2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.48555563A>G, NC_000017.10:g.46632925A>G, NM_002146.4:c.-191T>C, XM_011524708.4:c.-45T>C, XM_011524708.3:c.-45T>C, XM_011524708.2:c.523T>C, XM_011524708.1:c.523T>C, XM_011524726.3:c.-138T>C, XM_011524726.2:c.-138T>C, XM_011524726.1:c.-138T>C, XM_017024560.2:c.523T>C, XM_017024560.1:c.523T>C, XM_024450737.2:c.-2399T>C, XM_024450737.1:c.-2399T>C, NM_001330322.2:c.-138T>C, NM_001330322.1:c.-138T>C, XM_047435901.1:c.523T>C, XM_047435900.1:c.523T>C, XM_047435899.1:c.523T>C, XM_047435902.1:c.-3089T>C, XM_047435903.1:c.-3089T>C, XM_047435904.1:c.-3089T>C, XM_047435906.1:c.-2943T>C, XM_047435907.1:c.-138T>C, NM_001384749.1:c.-191T>C, NM_001384750.1:c.-138T>C, NM_001330323.1:c.-45T>C, XP_016880049.1:p.Cys175Arg, XP_047291857.1:p.Cys175Arg, XP_047291856.1:p.Cys175Arg, XP_047291855.1:p.Cys175Arg

                                        20.

                                        rs1480275731 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:48550337 (GRCh38)
                                          17:46627699 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:48550336:C:T
                                          Gene:
                                          HOXB3 (Varview), HOXB-AS1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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