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Items: 1 to 20 of 4883

1.

rs1491524476 has merged into rs71436064 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
    Chromosome:
    12:68450857 (GRCh38)
    12:68844637 (GRCh37)
    Canonical SPDI:
    NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000012.12:68450842:CACACACACACACACACA:CACACACACACACACACACACACACACACACA
    Gene:
    LINC02384 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACACACACACACACA=0./0 (ALFA)
    CA=0.0566/12 (Vietnamese)
    CA=0.07127/1195 (TOMMO)
    CA=0.23203/1162 (1000Genomes)
    CA=0.475/19 (GENOME_DK)
    HGVS:
    2.

    rs1491386366 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      12:68447150 (GRCh38)
      12:68840930 (GRCh37)
      Canonical SPDI:
      NC_000012.12:68447149:TA:
      Gene:
      LINC02384 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:
      3.

      rs1491311028 has merged into rs3046188 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
        Chromosome:
        12:68450288 (GRCh38)
        12:68844068 (GRCh37)
        Canonical SPDI:
        NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:68450277:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
        Gene:
        LINC02384 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ATATATATAT=0./0 (ALFA)
        HGVS:
        NC_000012.12:g.68450278AT[5], NC_000012.12:g.68450278AT[6], NC_000012.12:g.68450278AT[7], NC_000012.12:g.68450278AT[8], NC_000012.12:g.68450278AT[9], NC_000012.12:g.68450278AT[10], NC_000012.12:g.68450278AT[11], NC_000012.12:g.68450278AT[12], NC_000012.12:g.68450278AT[13], NC_000012.12:g.68450278AT[14], NC_000012.12:g.68450278AT[15], NC_000012.12:g.68450278AT[16], NC_000012.12:g.68450278AT[17], NC_000012.12:g.68450278AT[18], NC_000012.12:g.68450278AT[19], NC_000012.12:g.68450278AT[21], NC_000012.12:g.68450278AT[22], NC_000012.12:g.68450278AT[23], NC_000012.12:g.68450278AT[24], NC_000012.12:g.68450278AT[25], NC_000012.12:g.68450278AT[26], NC_000012.12:g.68450278AT[27], NC_000012.12:g.68450278AT[28], NC_000012.11:g.68844058AT[5], NC_000012.11:g.68844058AT[6], NC_000012.11:g.68844058AT[7], NC_000012.11:g.68844058AT[8], NC_000012.11:g.68844058AT[9], NC_000012.11:g.68844058AT[10], NC_000012.11:g.68844058AT[11], NC_000012.11:g.68844058AT[12], NC_000012.11:g.68844058AT[13], NC_000012.11:g.68844058AT[14], NC_000012.11:g.68844058AT[15], NC_000012.11:g.68844058AT[16], NC_000012.11:g.68844058AT[17], NC_000012.11:g.68844058AT[18], NC_000012.11:g.68844058AT[19], NC_000012.11:g.68844058AT[21], NC_000012.11:g.68844058AT[22], NC_000012.11:g.68844058AT[23], NC_000012.11:g.68844058AT[24], NC_000012.11:g.68844058AT[25], NC_000012.11:g.68844058AT[26], NC_000012.11:g.68844058AT[27], NC_000012.11:g.68844058AT[28]
        4.

        rs1491185304 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTAT [Show Flanks]
          Chromosome:
          12:68450278 (GRCh38)
          12:68844059 (GRCh37)
          Canonical SPDI:
          NC_000012.12:68450278:TAT:TATGTAT
          Gene:
          LINC02384 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TATGTAT=0./0 (ALFA)
          TATG=0.0014/3 (GnomAD)
          HGVS:
          5.

          rs1491143406 has merged into rs3046193 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            12:68447162 (GRCh38)
            12:68840942 (GRCh37)
            Canonical SPDI:
            NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:68447150:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            LINC02384 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000012.12:g.68447162_68447178del, NC_000012.12:g.68447164_68447178del, NC_000012.12:g.68447165_68447178del, NC_000012.12:g.68447166_68447178del, NC_000012.12:g.68447167_68447178del, NC_000012.12:g.68447168_68447178del, NC_000012.12:g.68447169_68447178del, NC_000012.12:g.68447170_68447178del, NC_000012.12:g.68447171_68447178del, NC_000012.12:g.68447172_68447178del, NC_000012.12:g.68447173_68447178del, NC_000012.12:g.68447174_68447178del, NC_000012.12:g.68447175_68447178del, NC_000012.12:g.68447176_68447178del, NC_000012.12:g.68447177_68447178del, NC_000012.12:g.68447178del, NC_000012.12:g.68447178dup, NC_000012.12:g.68447177_68447178dup, NC_000012.12:g.68447176_68447178dup, NC_000012.12:g.68447175_68447178dup, NC_000012.12:g.68447174_68447178dup, NC_000012.12:g.68447173_68447178dup, NC_000012.12:g.68447172_68447178dup, NC_000012.12:g.68447171_68447178dup, NC_000012.12:g.68447170_68447178dup, NC_000012.12:g.68447169_68447178dup, NC_000012.12:g.68447168_68447178dup, NC_000012.12:g.68447167_68447178dup, NC_000012.12:g.68447166_68447178dup, NC_000012.12:g.68447165_68447178dup, NC_000012.12:g.68447164_68447178dup, NC_000012.12:g.68447163_68447178dup, NC_000012.12:g.68447162_68447178dup, NC_000012.12:g.68447161_68447178dup, NC_000012.12:g.68447160_68447178dup, NC_000012.12:g.68447159_68447178dup, NC_000012.12:g.68447158_68447178dup, NC_000012.12:g.68447157_68447178dup, NC_000012.12:g.68447156_68447178dup, NC_000012.12:g.68447155_68447178dup, NC_000012.12:g.68447154_68447178dup, NC_000012.12:g.68447153_68447178dup, NC_000012.12:g.68447152_68447178dup, NC_000012.12:g.68447151_68447178dup, NC_000012.12:g.68447178_68447179insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.68447178_68447179insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.68447178_68447179insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.68447178_68447179insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.68840942_68840958del, NC_000012.11:g.68840944_68840958del, NC_000012.11:g.68840945_68840958del, NC_000012.11:g.68840946_68840958del, NC_000012.11:g.68840947_68840958del, NC_000012.11:g.68840948_68840958del, NC_000012.11:g.68840949_68840958del, NC_000012.11:g.68840950_68840958del, NC_000012.11:g.68840951_68840958del, NC_000012.11:g.68840952_68840958del, NC_000012.11:g.68840953_68840958del, NC_000012.11:g.68840954_68840958del, NC_000012.11:g.68840955_68840958del, NC_000012.11:g.68840956_68840958del, NC_000012.11:g.68840957_68840958del, NC_000012.11:g.68840958del, NC_000012.11:g.68840958dup, NC_000012.11:g.68840957_68840958dup, NC_000012.11:g.68840956_68840958dup, NC_000012.11:g.68840955_68840958dup, NC_000012.11:g.68840954_68840958dup, NC_000012.11:g.68840953_68840958dup, NC_000012.11:g.68840952_68840958dup, NC_000012.11:g.68840951_68840958dup, NC_000012.11:g.68840950_68840958dup, NC_000012.11:g.68840949_68840958dup, NC_000012.11:g.68840948_68840958dup, NC_000012.11:g.68840947_68840958dup, NC_000012.11:g.68840946_68840958dup, NC_000012.11:g.68840945_68840958dup, NC_000012.11:g.68840944_68840958dup, NC_000012.11:g.68840943_68840958dup, NC_000012.11:g.68840942_68840958dup, NC_000012.11:g.68840941_68840958dup, NC_000012.11:g.68840940_68840958dup, NC_000012.11:g.68840939_68840958dup, NC_000012.11:g.68840938_68840958dup, NC_000012.11:g.68840937_68840958dup, NC_000012.11:g.68840936_68840958dup, NC_000012.11:g.68840935_68840958dup, NC_000012.11:g.68840934_68840958dup, NC_000012.11:g.68840933_68840958dup, NC_000012.11:g.68840932_68840958dup, NC_000012.11:g.68840931_68840958dup, NC_000012.11:g.68840958_68840959insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.68840958_68840959insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.68840958_68840959insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.68840958_68840959insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10dup, NG_079761.1:g.8_10dup, NG_079761.1:g.7_10dup, NG_079761.1:g.6_10dup, NG_079761.1:g.5_10dup, NG_079761.1:g.4_10dup, NG_079761.1:g.3_10dup, NG_079761.1:g.2_10dup, NG_079761.1:g.1_10dup, NG_079761.1:g.10_11insAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_079761.1:g.10_11insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            6.

            rs1490993388 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:68448452 (GRCh38)
              12:68842232 (GRCh37)
              Canonical SPDI:
              NC_000012.12:68448451:C:T
              Gene:
              LINC02384 (Varview)
              Functional Consequence:
              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:
              7.

              rs1490713196 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:68447525 (GRCh38)
                12:68841305 (GRCh37)
                Canonical SPDI:
                NC_000012.12:68447524:T:C
                Gene:
                LINC02384 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1490694654 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  12:68432590 (GRCh38)
                  12:68826370 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:68432589:C:G
                  Gene:
                  LINC02384 (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:
                  9.

                  rs1490477253 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    12:68449160 (GRCh38)
                    12:68842940 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:68449159:TT:T
                    Gene:
                    LINC02384 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TT=0./0 (ALFA)
                    -=0.000011/3 (TOPMED)
                    -=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490428066 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      12:68442106 (GRCh38)
                      12:68835887 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:68442106:AAAA:AAAAA
                      Gene:
                      LINC02384 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AAAAA=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490401506 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:68441206 (GRCh38)
                        12:68834986 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:68441205:C:T
                        Gene:
                        LINC02384 (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.

                        rs1490242274 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          12:68441654 (GRCh38)
                          12:68835434 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:68441653:G:A,NC_000012.12:68441653:G:C
                          Gene:
                          LINC02384 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490208213 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            12:68450460 (GRCh38)
                            12:68844240 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:68450459:T:C,NC_000012.12:68450459:T:G
                            Gene:
                            LINC02384 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000009/1 (GnomAD)
                            G=0.000547/1 (Korea1K)
                            G=0.001239/21 (TOMMO)
                            HGVS:
                            14.

                            rs1490190550 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              TTA>-
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1490145221 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:68450034 (GRCh38)
                                12:68843814 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:68450033:G:A
                                Gene:
                                LINC02384 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1489704917 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:68435805 (GRCh38)
                                  12:68829585 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:68435804:T:C
                                  Gene:
                                  LINC02384 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489654057 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    12:68434654 (GRCh38)
                                    12:68828434 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:68434653:A:T
                                    Gene:
                                    LINC02384 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489651100 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      12:68447917 (GRCh38)
                                      12:68841697 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:68447916:C:G
                                      Gene:
                                      LINC02384 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489638420 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        12:68449930 (GRCh38)
                                        12:68843710 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:68449929:G:T
                                        Gene:
                                        LINC02384 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.00007/1 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489576662 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->GAATGTGTTTT [Show Flanks]
                                          Chromosome:
                                          12:68450300 (GRCh38)
                                          12:68844081 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:68450300:T:TGAATGTGTTTT
                                          Gene:
                                          LINC02384 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TGAATGTGTTTT=0./0 (ALFA)
                                          HGVS:

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