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Items: 1 to 20 of 107691

1.

rs1491589460 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    13:60065253 (GRCh38)
    13:60639387 (GRCh37)
    Canonical SPDI:
    NC_000013.11:60065252:TA:
    Gene:
    DIAPH3 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491557652 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      TC>-
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491551721 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        13:60119746 (GRCh38)
        13:60693880 (GRCh37)
        Canonical SPDI:
        NC_000013.11:60119745:CA:
        Gene:
        DIAPH3 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491538576 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          13:59882922 (GRCh38)
          13:60457057 (GRCh37)
          Canonical SPDI:
          NC_000013.11:59882922:A:AA
          Gene:
          DIAPH3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AA=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491535370 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->TG [Show Flanks]
            Chromosome:
            13:59871195 (GRCh38)
            13:60445330 (GRCh37)
            Canonical SPDI:
            NC_000013.11:59871195::TG
            Gene:
            DIAPH3 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TG=0./0 (ALFA)
            TG=0.000042/5 (GnomAD)
            HGVS:
            6.

            rs1491534789 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              13:59729810 (GRCh38)
              13:60303944 (GRCh37)
              Canonical SPDI:
              NC_000013.11:59729807:ATAT:AT
              Gene:
              DIAPH3 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              -=0.0002/1 (1000Genomes)
              HGVS:
              7.

              rs1491524819 has merged into rs760325907 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                13:59983136 (GRCh38)
                13:60557270 (GRCh37)
                Canonical SPDI:
                NC_000013.11:59983134:TCT:T
                Gene:
                DIAPH3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.03308/538 (ALFA)
                -=0.00164/3 (Korea1K)
                -=0.00188/31 (TOMMO)
                -=0.01852/11 (NorthernSweden)
                -=0.04284/189 (Estonian)
                -=0.05169/331 (1000Genomes)
                -=0.07655/5973 (GnomAD)
                HGVS:
                8.

                rs1491507057 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GT>- [Show Flanks]
                  Chromosome:
                  13:60134775 (GRCh38)
                  13:60708909 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:60134774:GT:
                  Gene:
                  DIAPH3 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1491488903 has merged into rs60792156 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    13:59917900 (GRCh38)
                    13:60492034 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59917889:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    DIAPH3 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000013.11:g.59917900_59917917del, NC_000013.11:g.59917901_59917917del, NC_000013.11:g.59917902_59917917del, NC_000013.11:g.59917903_59917917del, NC_000013.11:g.59917904_59917917del, NC_000013.11:g.59917905_59917917del, NC_000013.11:g.59917906_59917917del, NC_000013.11:g.59917907_59917917del, NC_000013.11:g.59917908_59917917del, NC_000013.11:g.59917909_59917917del, NC_000013.11:g.59917910_59917917del, NC_000013.11:g.59917911_59917917del, NC_000013.11:g.59917912_59917917del, NC_000013.11:g.59917913_59917917del, NC_000013.11:g.59917914_59917917del, NC_000013.11:g.59917915_59917917del, NC_000013.11:g.59917916_59917917del, NC_000013.11:g.59917917del, NC_000013.11:g.59917917dup, NC_000013.11:g.59917916_59917917dup, NC_000013.11:g.59917915_59917917dup, NC_000013.11:g.59917914_59917917dup, NC_000013.11:g.59917913_59917917dup, NC_000013.11:g.59917912_59917917dup, NC_000013.11:g.59917911_59917917dup, NC_000013.11:g.59917910_59917917dup, NC_000013.11:g.59917909_59917917dup, NC_000013.11:g.59917907_59917917dup, NC_000013.11:g.59917906_59917917dup, NC_000013.11:g.59917905_59917917dup, NC_000013.11:g.59917904_59917917dup, NC_000013.11:g.59917903_59917917dup, NC_000013.11:g.59917902_59917917dup, NC_000013.11:g.59917893_59917917dup, NC_000013.10:g.60492034_60492051del, NC_000013.10:g.60492035_60492051del, NC_000013.10:g.60492036_60492051del, NC_000013.10:g.60492037_60492051del, NC_000013.10:g.60492038_60492051del, NC_000013.10:g.60492039_60492051del, NC_000013.10:g.60492040_60492051del, NC_000013.10:g.60492041_60492051del, NC_000013.10:g.60492042_60492051del, NC_000013.10:g.60492043_60492051del, NC_000013.10:g.60492044_60492051del, NC_000013.10:g.60492045_60492051del, NC_000013.10:g.60492046_60492051del, NC_000013.10:g.60492047_60492051del, NC_000013.10:g.60492048_60492051del, NC_000013.10:g.60492049_60492051del, NC_000013.10:g.60492050_60492051del, NC_000013.10:g.60492051del, NC_000013.10:g.60492051dup, NC_000013.10:g.60492050_60492051dup, NC_000013.10:g.60492049_60492051dup, NC_000013.10:g.60492048_60492051dup, NC_000013.10:g.60492047_60492051dup, NC_000013.10:g.60492046_60492051dup, NC_000013.10:g.60492045_60492051dup, NC_000013.10:g.60492044_60492051dup, NC_000013.10:g.60492043_60492051dup, NC_000013.10:g.60492041_60492051dup, NC_000013.10:g.60492040_60492051dup, NC_000013.10:g.60492039_60492051dup, NC_000013.10:g.60492038_60492051dup, NC_000013.10:g.60492037_60492051dup, NC_000013.10:g.60492036_60492051dup, NC_000013.10:g.60492027_60492051dup, NG_032693.2:g.251079_251096del, NG_032693.2:g.251080_251096del, NG_032693.2:g.251081_251096del, NG_032693.2:g.251082_251096del, NG_032693.2:g.251083_251096del, NG_032693.2:g.251084_251096del, NG_032693.2:g.251085_251096del, NG_032693.2:g.251086_251096del, NG_032693.2:g.251087_251096del, NG_032693.2:g.251088_251096del, NG_032693.2:g.251089_251096del, NG_032693.2:g.251090_251096del, NG_032693.2:g.251091_251096del, NG_032693.2:g.251092_251096del, NG_032693.2:g.251093_251096del, NG_032693.2:g.251094_251096del, NG_032693.2:g.251095_251096del, NG_032693.2:g.251096del, NG_032693.2:g.251096dup, NG_032693.2:g.251095_251096dup, NG_032693.2:g.251094_251096dup, NG_032693.2:g.251093_251096dup, NG_032693.2:g.251092_251096dup, NG_032693.2:g.251091_251096dup, NG_032693.2:g.251090_251096dup, NG_032693.2:g.251089_251096dup, NG_032693.2:g.251088_251096dup, NG_032693.2:g.251086_251096dup, NG_032693.2:g.251085_251096dup, NG_032693.2:g.251084_251096dup, NG_032693.2:g.251083_251096dup, NG_032693.2:g.251082_251096dup, NG_032693.2:g.251081_251096dup, NG_032693.2:g.251072_251096dup
                    10.

                    rs1491486633 has merged into rs34701467 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAA>-,A,AA,AAAA,AAAAAAAAAA [Show Flanks]
                      Chromosome:
                      13:60086611 (GRCh38)
                      13:60660745 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:60086600:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:60086600:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:60086600:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:60086600:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:60086600:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                      Gene:
                      DIAPH3 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAA=0./0 (ALFA)
                      AA=0.4149/1599 (ALSPAC)
                      AA=0.468/1985 (1000Genomes)
                      HGVS:
                      11.

                      rs1491483740 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        13:59905342 (GRCh38)
                        13:60479476 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:59905341:CA:
                        Gene:
                        DIAPH3 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491474932 has merged into rs757042309 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          13:60156944 (GRCh38)
                          13:60731078 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60156939:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          Gene:
                          DIAPH3 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTT=0./0 (ALFA)
                          HGVS:
                          NC_000013.11:g.60156944_60156959del, NC_000013.11:g.60156946_60156959del, NC_000013.11:g.60156948_60156959del, NC_000013.11:g.60156949_60156959del, NC_000013.11:g.60156950_60156959del, NC_000013.11:g.60156951_60156959del, NC_000013.11:g.60156952_60156959del, NC_000013.11:g.60156953_60156959del, NC_000013.11:g.60156954_60156959del, NC_000013.11:g.60156955_60156959del, NC_000013.11:g.60156956_60156959del, NC_000013.11:g.60156957_60156959del, NC_000013.11:g.60156958_60156959del, NC_000013.11:g.60156959del, NC_000013.11:g.60156959dup, NC_000013.11:g.60156958_60156959dup, NC_000013.11:g.60156957_60156959dup, NC_000013.11:g.60156956_60156959dup, NC_000013.11:g.60156955_60156959dup, NC_000013.11:g.60156954_60156959dup, NC_000013.11:g.60156953_60156959dup, NC_000013.11:g.60156952_60156959dup, NC_000013.11:g.60156951_60156959dup, NC_000013.11:g.60156950_60156959dup, NC_000013.11:g.60156949_60156959dup, NC_000013.11:g.60156948_60156959dup, NC_000013.11:g.60156947_60156959dup, NC_000013.10:g.60731078_60731093del, NC_000013.10:g.60731080_60731093del, NC_000013.10:g.60731082_60731093del, NC_000013.10:g.60731083_60731093del, NC_000013.10:g.60731084_60731093del, NC_000013.10:g.60731085_60731093del, NC_000013.10:g.60731086_60731093del, NC_000013.10:g.60731087_60731093del, NC_000013.10:g.60731088_60731093del, NC_000013.10:g.60731089_60731093del, NC_000013.10:g.60731090_60731093del, NC_000013.10:g.60731091_60731093del, NC_000013.10:g.60731092_60731093del, NC_000013.10:g.60731093del, NC_000013.10:g.60731093dup, NC_000013.10:g.60731092_60731093dup, NC_000013.10:g.60731091_60731093dup, NC_000013.10:g.60731090_60731093dup, NC_000013.10:g.60731089_60731093dup, NC_000013.10:g.60731088_60731093dup, NC_000013.10:g.60731087_60731093dup, NC_000013.10:g.60731086_60731093dup, NC_000013.10:g.60731085_60731093dup, NC_000013.10:g.60731084_60731093dup, NC_000013.10:g.60731083_60731093dup, NC_000013.10:g.60731082_60731093dup, NC_000013.10:g.60731081_60731093dup, NG_032693.2:g.12031_12046del, NG_032693.2:g.12033_12046del, NG_032693.2:g.12035_12046del, NG_032693.2:g.12036_12046del, NG_032693.2:g.12037_12046del, NG_032693.2:g.12038_12046del, NG_032693.2:g.12039_12046del, NG_032693.2:g.12040_12046del, NG_032693.2:g.12041_12046del, NG_032693.2:g.12042_12046del, NG_032693.2:g.12043_12046del, NG_032693.2:g.12044_12046del, NG_032693.2:g.12045_12046del, NG_032693.2:g.12046del, NG_032693.2:g.12046dup, NG_032693.2:g.12045_12046dup, NG_032693.2:g.12044_12046dup, NG_032693.2:g.12043_12046dup, NG_032693.2:g.12042_12046dup, NG_032693.2:g.12041_12046dup, NG_032693.2:g.12040_12046dup, NG_032693.2:g.12039_12046dup, NG_032693.2:g.12038_12046dup, NG_032693.2:g.12037_12046dup, NG_032693.2:g.12036_12046dup, NG_032693.2:g.12035_12046dup, NG_032693.2:g.12034_12046dup
                          13.

                          rs1491461802 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->CTTTT
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1491458320 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GA>- [Show Flanks]
                              Chromosome:
                              13:59880998 (GRCh38)
                              13:60455132 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:59880996:AGA:A
                              Gene:
                              DIAPH3 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.00008/1 (ALFA)
                              HGVS:
                              15.

                              rs1491444131 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                13:59918945 (GRCh38)
                                13:60493080 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:59918945::C
                                Gene:
                                DIAPH3 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by cluster
                                HGVS:
                                16.

                                rs1491439531 has merged into rs59114311 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  13:59905355 (GRCh38)
                                  13:60479489 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:59905342:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  DIAPH3 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAA=0./0 (ALFA)
                                  AAAAAAA=0./0 (GENOME_DK)
                                  -=0.4008/2007 (1000Genomes)
                                  HGVS:
                                  NC_000013.11:g.59905355_59905370del, NC_000013.11:g.59905356_59905370del, NC_000013.11:g.59905357_59905370del, NC_000013.11:g.59905358_59905370del, NC_000013.11:g.59905359_59905370del, NC_000013.11:g.59905360_59905370del, NC_000013.11:g.59905361_59905370del, NC_000013.11:g.59905362_59905370del, NC_000013.11:g.59905363_59905370del, NC_000013.11:g.59905364_59905370del, NC_000013.11:g.59905365_59905370del, NC_000013.11:g.59905366_59905370del, NC_000013.11:g.59905367_59905370del, NC_000013.11:g.59905368_59905370del, NC_000013.11:g.59905369_59905370del, NC_000013.11:g.59905370del, NC_000013.11:g.59905370dup, NC_000013.11:g.59905369_59905370dup, NC_000013.11:g.59905368_59905370dup, NC_000013.11:g.59905367_59905370dup, NC_000013.11:g.59905366_59905370dup, NC_000013.11:g.59905365_59905370dup, NC_000013.11:g.59905364_59905370dup, NC_000013.11:g.59905363_59905370dup, NC_000013.11:g.59905362_59905370dup, NC_000013.11:g.59905361_59905370dup, NC_000013.11:g.59905360_59905370dup, NC_000013.11:g.59905359_59905370dup, NC_000013.11:g.59905358_59905370dup, NC_000013.11:g.59905357_59905370dup, NC_000013.11:g.59905356_59905370dup, NC_000013.11:g.59905355_59905370dup, NC_000013.11:g.59905354_59905370dup, NC_000013.11:g.59905353_59905370dup, NC_000013.11:g.59905352_59905370dup, NC_000013.11:g.59905351_59905370dup, NC_000013.11:g.59905350_59905370dup, NC_000013.11:g.59905349_59905370dup, NC_000013.11:g.59905348_59905370dup, NC_000013.11:g.59905347_59905370dup, NC_000013.11:g.59905346_59905370dup, NC_000013.11:g.59905370_59905371insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.60479489_60479504del, NC_000013.10:g.60479490_60479504del, NC_000013.10:g.60479491_60479504del, NC_000013.10:g.60479492_60479504del, NC_000013.10:g.60479493_60479504del, NC_000013.10:g.60479494_60479504del, NC_000013.10:g.60479495_60479504del, NC_000013.10:g.60479496_60479504del, NC_000013.10:g.60479497_60479504del, NC_000013.10:g.60479498_60479504del, NC_000013.10:g.60479499_60479504del, NC_000013.10:g.60479500_60479504del, NC_000013.10:g.60479501_60479504del, NC_000013.10:g.60479502_60479504del, NC_000013.10:g.60479503_60479504del, NC_000013.10:g.60479504del, NC_000013.10:g.60479504dup, NC_000013.10:g.60479503_60479504dup, NC_000013.10:g.60479502_60479504dup, NC_000013.10:g.60479501_60479504dup, NC_000013.10:g.60479500_60479504dup, NC_000013.10:g.60479499_60479504dup, NC_000013.10:g.60479498_60479504dup, NC_000013.10:g.60479497_60479504dup, NC_000013.10:g.60479496_60479504dup, NC_000013.10:g.60479495_60479504dup, NC_000013.10:g.60479494_60479504dup, NC_000013.10:g.60479493_60479504dup, NC_000013.10:g.60479492_60479504dup, NC_000013.10:g.60479491_60479504dup, NC_000013.10:g.60479490_60479504dup, NC_000013.10:g.60479489_60479504dup, NC_000013.10:g.60479488_60479504dup, NC_000013.10:g.60479487_60479504dup, NC_000013.10:g.60479486_60479504dup, NC_000013.10:g.60479485_60479504dup, NC_000013.10:g.60479484_60479504dup, NC_000013.10:g.60479483_60479504dup, NC_000013.10:g.60479482_60479504dup, NC_000013.10:g.60479481_60479504dup, NC_000013.10:g.60479480_60479504dup, NC_000013.10:g.60479504_60479505insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032693.2:g.263628_263643del, NG_032693.2:g.263629_263643del, NG_032693.2:g.263630_263643del, NG_032693.2:g.263631_263643del, NG_032693.2:g.263632_263643del, NG_032693.2:g.263633_263643del, NG_032693.2:g.263634_263643del, NG_032693.2:g.263635_263643del, NG_032693.2:g.263636_263643del, NG_032693.2:g.263637_263643del, NG_032693.2:g.263638_263643del, NG_032693.2:g.263639_263643del, NG_032693.2:g.263640_263643del, NG_032693.2:g.263641_263643del, NG_032693.2:g.263642_263643del, NG_032693.2:g.263643del, NG_032693.2:g.263643dup, NG_032693.2:g.263642_263643dup, NG_032693.2:g.263641_263643dup, NG_032693.2:g.263640_263643dup, NG_032693.2:g.263639_263643dup, NG_032693.2:g.263638_263643dup, NG_032693.2:g.263637_263643dup, NG_032693.2:g.263636_263643dup, NG_032693.2:g.263635_263643dup, NG_032693.2:g.263634_263643dup, NG_032693.2:g.263633_263643dup, NG_032693.2:g.263632_263643dup, NG_032693.2:g.263631_263643dup, NG_032693.2:g.263630_263643dup, NG_032693.2:g.263629_263643dup, NG_032693.2:g.263628_263643dup, NG_032693.2:g.263627_263643dup, NG_032693.2:g.263626_263643dup, NG_032693.2:g.263625_263643dup, NG_032693.2:g.263624_263643dup, NG_032693.2:g.263623_263643dup, NG_032693.2:g.263622_263643dup, NG_032693.2:g.263621_263643dup, NG_032693.2:g.263620_263643dup, NG_032693.2:g.263619_263643dup, NG_032693.2:g.263643_263644insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  17.

                                  rs1491436706 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    ->ATGT
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:
                                    18.

                                    rs1491425353 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      13:60134775 (GRCh38)
                                      13:60708910 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:60134775:T:TT
                                      Gene:
                                      DIAPH3 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TT=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491420426 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->A,AA [Show Flanks]
                                        Chromosome:
                                        13:59884780 (GRCh38)
                                        13:60458915 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:59884780::A,NC_000013.11:59884780::AA
                                        Gene:
                                        DIAPH3 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AA=0./0 (ALFA)
                                        A=0.00274/5 (Korea1K)
                                        A=0.00836/335 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491411379 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->CAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          13:60105100 (GRCh38)
                                          13:60679235 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:60105100:AAAAAAAAAAA:AAAAAAAAAAACAAAAAAAAAAA
                                          Gene:
                                          DIAPH3 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          AAAAAAAAAAAC=0.00007/5 (GnomAD)
                                          HGVS:

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