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Items: 1 to 20 of 10890

1.

rs1491559410 has merged into rs5807883 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    14:36516829 (GRCh38)
    14:36986034 (GRCh37)
    Canonical SPDI:
    NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    NKX2-1 (Varview), SFTA3 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000014.9:g.36516829_36516832del, NC_000014.9:g.36516830_36516832del, NC_000014.9:g.36516831_36516832del, NC_000014.9:g.36516832del, NC_000014.9:g.36516832dup, NC_000014.9:g.36516831_36516832dup, NC_000014.9:g.36516830_36516832dup, NC_000014.9:g.36516829_36516832dup, NC_000014.9:g.36516821_36516832dup, NC_000014.8:g.36986034_36986037del, NC_000014.8:g.36986035_36986037del, NC_000014.8:g.36986036_36986037del, NC_000014.8:g.36986037del, NC_000014.8:g.36986037dup, NC_000014.8:g.36986036_36986037dup, NC_000014.8:g.36986035_36986037dup, NC_000014.8:g.36986034_36986037dup, NC_000014.8:g.36986026_36986037dup, NG_013365.1:g.8405_8408del, NG_013365.1:g.8406_8408del, NG_013365.1:g.8407_8408del, NG_013365.1:g.8408del, NG_013365.1:g.8408dup, NG_013365.1:g.8407_8408dup, NG_013365.1:g.8406_8408dup, NG_013365.1:g.8405_8408dup, NG_013365.1:g.8397_8408dup, NM_003317.4:c.*457_*460del, NM_003317.4:c.*458_*460del, NM_003317.4:c.*459_*460del, NM_003317.4:c.*460del, NM_003317.4:c.*460dup, NM_003317.4:c.*459_*460dup, NM_003317.4:c.*458_*460dup, NM_003317.4:c.*457_*460dup, NM_003317.4:c.*449_*460dup, NM_003317.3:c.*457_*460del, NM_003317.3:c.*458_*460del, NM_003317.3:c.*459_*460del, NM_003317.3:c.*460del, NM_003317.3:c.*460dup, NM_003317.3:c.*459_*460dup, NM_003317.3:c.*458_*460dup, NM_003317.3:c.*457_*460dup, NM_003317.3:c.*449_*460dup, NM_001079668.3:c.*457_*460del, NM_001079668.3:c.*458_*460del, NM_001079668.3:c.*459_*460del, NM_001079668.3:c.*460del, NM_001079668.3:c.*460dup, NM_001079668.3:c.*459_*460dup, NM_001079668.3:c.*458_*460dup, NM_001079668.3:c.*457_*460dup, NM_001079668.3:c.*449_*460dup, NM_001079668.2:c.*457_*460del, NM_001079668.2:c.*458_*460del, NM_001079668.2:c.*459_*460del, NM_001079668.2:c.*460del, NM_001079668.2:c.*460dup, NM_001079668.2:c.*459_*460dup, NM_001079668.2:c.*458_*460dup, NM_001079668.2:c.*457_*460dup, NM_001079668.2:c.*449_*460dup

    2.

    rs1491543979 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      14:36498209 (GRCh38)
      14:36967414 (GRCh37)
      Canonical SPDI:
      NC_000014.9:36498208:TA:
      Gene:
      SFTA3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:

      3.

      rs1491538547 has merged into rs561567631 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        14:36498219 (GRCh38)
        14:36967424 (GRCh37)
        Canonical SPDI:
        NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:36498209:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        SFTA3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAA=0./0 (ALFA)
        AAAAAAAAAAAAAAAAAAAAAA=0.4048/2027 (1000Genomes)
        HGVS:
        NC_000014.9:g.36498219_36498242del, NC_000014.9:g.36498220_36498242del, NC_000014.9:g.36498221_36498242del, NC_000014.9:g.36498222_36498242del, NC_000014.9:g.36498223_36498242del, NC_000014.9:g.36498224_36498242del, NC_000014.9:g.36498225_36498242del, NC_000014.9:g.36498226_36498242del, NC_000014.9:g.36498227_36498242del, NC_000014.9:g.36498228_36498242del, NC_000014.9:g.36498229_36498242del, NC_000014.9:g.36498230_36498242del, NC_000014.9:g.36498231_36498242del, NC_000014.9:g.36498232_36498242del, NC_000014.9:g.36498233_36498242del, NC_000014.9:g.36498234_36498242del, NC_000014.9:g.36498235_36498242del, NC_000014.9:g.36498236_36498242del, NC_000014.9:g.36498237_36498242del, NC_000014.9:g.36498238_36498242del, NC_000014.9:g.36498239_36498242del, NC_000014.9:g.36498240_36498242del, NC_000014.9:g.36498241_36498242del, NC_000014.9:g.36498242del, NC_000014.9:g.36498242dup, NC_000014.9:g.36498241_36498242dup, NC_000014.9:g.36498240_36498242dup, NC_000014.9:g.36498239_36498242dup, NC_000014.9:g.36498238_36498242dup, NC_000014.9:g.36498237_36498242dup, NC_000014.9:g.36498236_36498242dup, NC_000014.9:g.36498235_36498242dup, NC_000014.9:g.36498234_36498242dup, NC_000014.9:g.36498233_36498242dup, NC_000014.9:g.36498232_36498242dup, NC_000014.9:g.36498231_36498242dup, NC_000014.9:g.36498230_36498242dup, NC_000014.9:g.36498229_36498242dup, NC_000014.9:g.36498228_36498242dup, NC_000014.9:g.36498227_36498242dup, NC_000014.9:g.36498226_36498242dup, NC_000014.9:g.36498224_36498242dup, NC_000014.9:g.36498221_36498242dup, NC_000014.9:g.36498217_36498242dup, NC_000014.9:g.36498212_36498242dup, NC_000014.8:g.36967424_36967447del, NC_000014.8:g.36967425_36967447del, NC_000014.8:g.36967426_36967447del, NC_000014.8:g.36967427_36967447del, NC_000014.8:g.36967428_36967447del, NC_000014.8:g.36967429_36967447del, NC_000014.8:g.36967430_36967447del, NC_000014.8:g.36967431_36967447del, NC_000014.8:g.36967432_36967447del, NC_000014.8:g.36967433_36967447del, NC_000014.8:g.36967434_36967447del, NC_000014.8:g.36967435_36967447del, NC_000014.8:g.36967436_36967447del, NC_000014.8:g.36967437_36967447del, NC_000014.8:g.36967438_36967447del, NC_000014.8:g.36967439_36967447del, NC_000014.8:g.36967440_36967447del, NC_000014.8:g.36967441_36967447del, NC_000014.8:g.36967442_36967447del, NC_000014.8:g.36967443_36967447del, NC_000014.8:g.36967444_36967447del, NC_000014.8:g.36967445_36967447del, NC_000014.8:g.36967446_36967447del, NC_000014.8:g.36967447del, NC_000014.8:g.36967447dup, NC_000014.8:g.36967446_36967447dup, NC_000014.8:g.36967445_36967447dup, NC_000014.8:g.36967444_36967447dup, NC_000014.8:g.36967443_36967447dup, NC_000014.8:g.36967442_36967447dup, NC_000014.8:g.36967441_36967447dup, NC_000014.8:g.36967440_36967447dup, NC_000014.8:g.36967439_36967447dup, NC_000014.8:g.36967438_36967447dup, NC_000014.8:g.36967437_36967447dup, NC_000014.8:g.36967436_36967447dup, NC_000014.8:g.36967435_36967447dup, NC_000014.8:g.36967434_36967447dup, NC_000014.8:g.36967433_36967447dup, NC_000014.8:g.36967432_36967447dup, NC_000014.8:g.36967431_36967447dup, NC_000014.8:g.36967429_36967447dup, NC_000014.8:g.36967426_36967447dup, NC_000014.8:g.36967422_36967447dup, NC_000014.8:g.36967417_36967447dup

        4.

        rs1491489710 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AA>- [Show Flanks]
          Chromosome:
          14:36511607 (GRCh38)
          14:36980812 (GRCh37)
          Canonical SPDI:
          NC_000014.9:36511606:AA:
          Gene:
          SFTA3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.000084/1 (ALFA)
          -=0.000021/3 (GnomAD)
          HGVS:

          5.

          rs1491414310 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TC>- [Show Flanks]
            Chromosome:
            14:36520440 (GRCh38)
            14:36989645 (GRCh37)
            Canonical SPDI:
            NC_000014.9:36520439:TC:
            Gene:
            NKX2-1 (Varview), SFTA3 (Varview), NKX2-1-AS1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00008/1 (ALFA)
            HGVS:

            6.

            rs1491222200 has merged into rs548494062 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG [Show Flanks]
              Chromosome:
              14:36507626 (GRCh38)
              14:36976831 (GRCh37)
              Canonical SPDI:
              NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG
              Gene:
              SFTA3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGGGGGGGG=0./0 (ALFA)
              -=0.3764/1885 (1000Genomes)
              -=0.4737/18 (GENOME_DK)
              HGVS:
              NC_000014.9:g.36507626_36507627del, NC_000014.9:g.36507627del, NC_000014.9:g.36507627dup, NC_000014.9:g.36507626_36507627dup, NC_000014.9:g.36507625_36507627dup, NC_000014.9:g.36507624_36507627dup, NC_000014.9:g.36507623_36507627dup, NC_000014.9:g.36507622_36507627dup, NC_000014.9:g.36507621_36507627dup, NC_000014.9:g.36507620_36507627dup, NC_000014.9:g.36507619_36507627dup, NC_000014.9:g.36507618_36507627dup, NC_000014.9:g.36507627_36507628insGGGGGGGGGGG, NC_000014.9:g.36507627_36507628insGGGGGGGGGGGG, NC_000014.9:g.36507627_36507628insGGGGGGGGGGGGG, NC_000014.8:g.36976831_36976832del, NC_000014.8:g.36976832del, NC_000014.8:g.36976832dup, NC_000014.8:g.36976831_36976832dup, NC_000014.8:g.36976830_36976832dup, NC_000014.8:g.36976829_36976832dup, NC_000014.8:g.36976828_36976832dup, NC_000014.8:g.36976827_36976832dup, NC_000014.8:g.36976826_36976832dup, NC_000014.8:g.36976825_36976832dup, NC_000014.8:g.36976824_36976832dup, NC_000014.8:g.36976823_36976832dup, NC_000014.8:g.36976832_36976833insGGGGGGGGGGG, NC_000014.8:g.36976832_36976833insGGGGGGGGGGGG, NC_000014.8:g.36976832_36976833insGGGGGGGGGGGGG

              7.

              rs1491167959 has merged into rs71124757 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CCCCCCCC>-,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC [Show Flanks]
                Chromosome:
                14:36520447 (GRCh38)
                14:36989652 (GRCh37)
                Canonical SPDI:
                NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000014.9:36520440:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC
                Gene:
                NKX2-1 (Varview), SFTA3 (Varview), NKX2-1-AS1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCCCCCCCC=0./0 (ALFA)
                HGVS:
                NC_000014.9:g.36520447_36520454del, NC_000014.9:g.36520450_36520454del, NC_000014.9:g.36520451_36520454del, NC_000014.9:g.36520452_36520454del, NC_000014.9:g.36520453_36520454del, NC_000014.9:g.36520454del, NC_000014.9:g.36520454dup, NC_000014.9:g.36520453_36520454dup, NC_000014.9:g.36520452_36520454dup, NC_000014.9:g.36520451_36520454dup, NC_000014.9:g.36520450_36520454dup, NC_000014.9:g.36520449_36520454dup, NC_000014.9:g.36520448_36520454dup, NC_000014.9:g.36520447_36520454dup, NC_000014.9:g.36520445_36520454dup, NC_000014.9:g.36520444_36520454dup, NC_000014.8:g.36989652_36989659del, NC_000014.8:g.36989655_36989659del, NC_000014.8:g.36989656_36989659del, NC_000014.8:g.36989657_36989659del, NC_000014.8:g.36989658_36989659del, NC_000014.8:g.36989659del, NC_000014.8:g.36989659dup, NC_000014.8:g.36989658_36989659dup, NC_000014.8:g.36989657_36989659dup, NC_000014.8:g.36989656_36989659dup, NC_000014.8:g.36989655_36989659dup, NC_000014.8:g.36989654_36989659dup, NC_000014.8:g.36989653_36989659dup, NC_000014.8:g.36989652_36989659dup, NC_000014.8:g.36989650_36989659dup, NC_000014.8:g.36989649_36989659dup, NG_013365.1:g.4778_4785del, NG_013365.1:g.4781_4785del, NG_013365.1:g.4782_4785del, NG_013365.1:g.4783_4785del, NG_013365.1:g.4784_4785del, NG_013365.1:g.4785del, NG_013365.1:g.4785dup, NG_013365.1:g.4784_4785dup, NG_013365.1:g.4783_4785dup, NG_013365.1:g.4782_4785dup, NG_013365.1:g.4781_4785dup, NG_013365.1:g.4780_4785dup, NG_013365.1:g.4779_4785dup, NG_013365.1:g.4778_4785dup, NG_013365.1:g.4776_4785dup, NG_013365.1:g.4775_4785dup

                8.

                rs1491155202 has merged into rs5807883 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  14:36516829 (GRCh38)
                  14:36986034 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:36516817:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  NKX2-1 (Varview), SFTA3 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAA=0./0 (ALFA)
                  HGVS:
                  NC_000014.9:g.36516829_36516832del, NC_000014.9:g.36516830_36516832del, NC_000014.9:g.36516831_36516832del, NC_000014.9:g.36516832del, NC_000014.9:g.36516832dup, NC_000014.9:g.36516831_36516832dup, NC_000014.9:g.36516830_36516832dup, NC_000014.9:g.36516829_36516832dup, NC_000014.9:g.36516821_36516832dup, NC_000014.8:g.36986034_36986037del, NC_000014.8:g.36986035_36986037del, NC_000014.8:g.36986036_36986037del, NC_000014.8:g.36986037del, NC_000014.8:g.36986037dup, NC_000014.8:g.36986036_36986037dup, NC_000014.8:g.36986035_36986037dup, NC_000014.8:g.36986034_36986037dup, NC_000014.8:g.36986026_36986037dup, NG_013365.1:g.8405_8408del, NG_013365.1:g.8406_8408del, NG_013365.1:g.8407_8408del, NG_013365.1:g.8408del, NG_013365.1:g.8408dup, NG_013365.1:g.8407_8408dup, NG_013365.1:g.8406_8408dup, NG_013365.1:g.8405_8408dup, NG_013365.1:g.8397_8408dup, NM_003317.4:c.*457_*460del, NM_003317.4:c.*458_*460del, NM_003317.4:c.*459_*460del, NM_003317.4:c.*460del, NM_003317.4:c.*460dup, NM_003317.4:c.*459_*460dup, NM_003317.4:c.*458_*460dup, NM_003317.4:c.*457_*460dup, NM_003317.4:c.*449_*460dup, NM_003317.3:c.*457_*460del, NM_003317.3:c.*458_*460del, NM_003317.3:c.*459_*460del, NM_003317.3:c.*460del, NM_003317.3:c.*460dup, NM_003317.3:c.*459_*460dup, NM_003317.3:c.*458_*460dup, NM_003317.3:c.*457_*460dup, NM_003317.3:c.*449_*460dup, NM_001079668.3:c.*457_*460del, NM_001079668.3:c.*458_*460del, NM_001079668.3:c.*459_*460del, NM_001079668.3:c.*460del, NM_001079668.3:c.*460dup, NM_001079668.3:c.*459_*460dup, NM_001079668.3:c.*458_*460dup, NM_001079668.3:c.*457_*460dup, NM_001079668.3:c.*449_*460dup, NM_001079668.2:c.*457_*460del, NM_001079668.2:c.*458_*460del, NM_001079668.2:c.*459_*460del, NM_001079668.2:c.*460del, NM_001079668.2:c.*460dup, NM_001079668.2:c.*459_*460dup, NM_001079668.2:c.*458_*460dup, NM_001079668.2:c.*457_*460dup, NM_001079668.2:c.*449_*460dup

                  9.

                  rs1491076349 has merged into rs375833519 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    14:36474236 (GRCh38)
                    14:36943441 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36474226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    SFTA3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTT=0./0 (ALFA)
                    HGVS:
                    NC_000014.9:g.36474236_36474250del, NC_000014.9:g.36474237_36474250del, NC_000014.9:g.36474238_36474250del, NC_000014.9:g.36474239_36474250del, NC_000014.9:g.36474240_36474250del, NC_000014.9:g.36474241_36474250del, NC_000014.9:g.36474242_36474250del, NC_000014.9:g.36474243_36474250del, NC_000014.9:g.36474244_36474250del, NC_000014.9:g.36474245_36474250del, NC_000014.9:g.36474246_36474250del, NC_000014.9:g.36474247_36474250del, NC_000014.9:g.36474248_36474250del, NC_000014.9:g.36474249_36474250del, NC_000014.9:g.36474250del, NC_000014.9:g.36474250dup, NC_000014.9:g.36474249_36474250dup, NC_000014.9:g.36474248_36474250dup, NC_000014.9:g.36474247_36474250dup, NC_000014.9:g.36474246_36474250dup, NC_000014.9:g.36474245_36474250dup, NC_000014.9:g.36474244_36474250dup, NC_000014.9:g.36474243_36474250dup, NC_000014.9:g.36474242_36474250dup, NC_000014.9:g.36474240_36474250dup, NC_000014.9:g.36474250_36474251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36474250_36474251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36943441_36943455del, NC_000014.8:g.36943442_36943455del, NC_000014.8:g.36943443_36943455del, NC_000014.8:g.36943444_36943455del, NC_000014.8:g.36943445_36943455del, NC_000014.8:g.36943446_36943455del, NC_000014.8:g.36943447_36943455del, NC_000014.8:g.36943448_36943455del, NC_000014.8:g.36943449_36943455del, NC_000014.8:g.36943450_36943455del, NC_000014.8:g.36943451_36943455del, NC_000014.8:g.36943452_36943455del, NC_000014.8:g.36943453_36943455del, NC_000014.8:g.36943454_36943455del, NC_000014.8:g.36943455del, NC_000014.8:g.36943455dup, NC_000014.8:g.36943454_36943455dup, NC_000014.8:g.36943453_36943455dup, NC_000014.8:g.36943452_36943455dup, NC_000014.8:g.36943451_36943455dup, NC_000014.8:g.36943450_36943455dup, NC_000014.8:g.36943449_36943455dup, NC_000014.8:g.36943448_36943455dup, NC_000014.8:g.36943447_36943455dup, NC_000014.8:g.36943445_36943455dup, NC_000014.8:g.36943455_36943456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36943455_36943456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                    10.

                    rs1490965548 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      14:36487621 (GRCh38)
                      14:36956826 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:36487620:TTT:TT
                      Gene:
                      SFTA3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TT=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1490963251 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        14:36503751 (GRCh38)
                        14:36972956 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:36503750:C:T
                        Gene:
                        SFTA3 (Varview)
                        Functional Consequence:
                        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:

                        12.

                        rs1490825678 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:36521311 (GRCh38)
                          14:36990516 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:36521310:G:A
                          Gene:
                          NKX2-1 (Varview), SFTA3 (Varview), NKX2-1-AS1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490784287 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:36511794 (GRCh38)
                            14:36980999 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:36511793:C:T
                            Gene:
                            SFTA3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1490728266 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              14:36478563 (GRCh38)
                              14:36947768 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:36478562:C:A
                              Gene:
                              SFTA3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.00017/2 (ALFA)
                              A=0.00445/13 (KOREAN)
                              HGVS:

                              15.

                              rs1490688121 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                14:36510945 (GRCh38)
                                14:36980150 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:36510944:T:G
                                Gene:
                                SFTA3 (Varview)
                                Functional Consequence:
                                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:

                                16.

                                rs1490656470 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  14:36477522 (GRCh38)
                                  14:36946727 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:36477521:A:T
                                  Gene:
                                  SFTA3 (Varview)
                                  Functional Consequence:
                                  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:

                                  17.

                                  rs1490610010 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    14:36473892 (GRCh38)
                                    14:36943097 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:36473891:A:G
                                    Gene:
                                    SFTA3 (Varview)
                                    Functional Consequence:
                                    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:

                                    18.

                                    rs1490589903 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:36504458 (GRCh38)
                                      14:36973663 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:36504457:G:A
                                      Gene:
                                      SFTA3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490568610 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        14:36504260 (GRCh38)
                                        14:36973465 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:36504259:C:A,NC_000014.9:36504259:C:G,NC_000014.9:36504259:C:T
                                        Gene:
                                        SFTA3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490560061 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          14:36518094 (GRCh38)
                                          14:36987299 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:36518093:C:A
                                          Gene:
                                          NKX2-1 (Varview), SFTA3 (Varview), NKX2-1-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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