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Items: 1 to 20 of 2814

1.

rs1491573230 has merged into rs199908321 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
    Chromosome:
    3:196317171 (GRCh38)
    3:196044042 (GRCh37)
    Canonical SPDI:
    NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
    Gene:
    DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
    -=0.0976/376 (ALSPAC)
    GT=0.4906/2457 (1000Genomes)
    HGVS:
    NC_000003.12:g.196317155GT[8], NC_000003.12:g.196317155GT[9], NC_000003.12:g.196317155GT[10], NC_000003.12:g.196317155GT[11], NC_000003.12:g.196317155GT[12], NC_000003.12:g.196317155GT[13], NC_000003.12:g.196317155GT[15], NC_000003.12:g.196317155GT[16], NC_000003.12:g.196317155GT[17], NC_000003.12:g.196317155GT[18], NC_000003.12:g.196317155GT[23], NC_000003.11:g.196044026GT[8], NC_000003.11:g.196044026GT[9], NC_000003.11:g.196044026GT[10], NC_000003.11:g.196044026GT[11], NC_000003.11:g.196044026GT[12], NC_000003.11:g.196044026GT[13], NC_000003.11:g.196044026GT[15], NC_000003.11:g.196044026GT[16], NC_000003.11:g.196044026GT[17], NC_000003.11:g.196044026GT[18], NC_000003.11:g.196044026GT[23], NG_054930.1:g.6113AC[8], NG_054930.1:g.6113AC[9], NG_054930.1:g.6113AC[10], NG_054930.1:g.6113AC[11], NG_054930.1:g.6113AC[12], NG_054930.1:g.6113AC[13], NG_054930.1:g.6113AC[15], NG_054930.1:g.6113AC[16], NG_054930.1:g.6113AC[17], NG_054930.1:g.6113AC[18], NG_054930.1:g.6113AC[23], XR_001740547.2:n.410AC[8], XR_001740547.2:n.410AC[9], XR_001740547.2:n.410AC[10], XR_001740547.2:n.410AC[11], XR_001740547.2:n.410AC[12], XR_001740547.2:n.410AC[13], XR_001740547.2:n.410AC[15], XR_001740547.2:n.410AC[16], XR_001740547.2:n.410AC[17], XR_001740547.2:n.410AC[18], XR_001740547.2:n.410AC[23], XR_001740547.1:n.824AC[8], XR_001740547.1:n.824AC[9], XR_001740547.1:n.824AC[10], XR_001740547.1:n.824AC[11], XR_001740547.1:n.824AC[12], XR_001740547.1:n.824AC[13], XR_001740547.1:n.824AC[15], XR_001740547.1:n.824AC[16], XR_001740547.1:n.824AC[17], XR_001740547.1:n.824AC[18], XR_001740547.1:n.824AC[23]
    2.

    rs1491562206 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GG>- [Show Flanks]
      Chromosome:
      3:196317062 (GRCh38)
      3:196043933 (GRCh37)
      Canonical SPDI:
      NC_000003.12:196317061:GG:
      Gene:
      DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by cluster
      HGVS:
      3.

      rs1491561726 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        3:196320105 (GRCh38)
        3:196046976 (GRCh37)
        Canonical SPDI:
        NC_000003.12:196320104:CA:
        Gene:
        DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00076/9 (ALFA)
        -=0.00364/102 (TOMMO)
        HGVS:
        4.

        rs1491454362 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->T,TGT,TGTGT [Show Flanks]
          Chromosome:
          3:196317062 (GRCh38)
          3:196043934 (GRCh37)
          Canonical SPDI:
          NC_000003.12:196317062::T,NC_000003.12:196317062::TGT,NC_000003.12:196317062::TGTGT
          Gene:
          DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.00051/6 (ALFA)
          T=0.00084/6 (TOMMO)
          HGVS:
          5.

          rs1491409106 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AG>- [Show Flanks]
            Chromosome:
            3:196317021 (GRCh38)
            3:196043892 (GRCh37)
            Canonical SPDI:
            NC_000003.12:196317020:AG:
            Gene:
            DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.00017/2 (ALFA)
            -=0.00017/3 (TOMMO)
            HGVS:
            6.

            rs1491402348 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              3:196317154 (GRCh38)
              3:196044025 (GRCh37)
              Canonical SPDI:
              NC_000003.12:196317153:AG:
              Gene:
              DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00143/17 (ALFA)
              HGVS:
              7.

              rs1491344452 has merged into rs758076354 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                Chromosome:
                3:196317485 (GRCh38)
                3:196044356 (GRCh37)
                Canonical SPDI:
                NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                Gene:
                DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GTGTGTGTGTGTGT=0./0 (ALFA)
                -=0.0205/79 (ALSPAC)
                HGVS:
                NC_000003.12:g.196317471GT[7], NC_000003.12:g.196317471GT[8], NC_000003.12:g.196317471GT[9], NC_000003.12:g.196317471GT[10], NC_000003.12:g.196317471GT[11], NC_000003.12:g.196317471GT[12], NC_000003.12:g.196317471GT[13], NC_000003.12:g.196317471GT[14], NC_000003.12:g.196317471GT[16], NC_000003.12:g.196317471GT[17], NC_000003.12:g.196317471GT[18], NC_000003.12:g.196317471GT[19], NC_000003.12:g.196317471GT[20], NC_000003.11:g.196044342GT[7], NC_000003.11:g.196044342GT[8], NC_000003.11:g.196044342GT[9], NC_000003.11:g.196044342GT[10], NC_000003.11:g.196044342GT[11], NC_000003.11:g.196044342GT[12], NC_000003.11:g.196044342GT[13], NC_000003.11:g.196044342GT[14], NC_000003.11:g.196044342GT[16], NC_000003.11:g.196044342GT[17], NC_000003.11:g.196044342GT[18], NC_000003.11:g.196044342GT[19], NC_000003.11:g.196044342GT[20], NG_054930.1:g.5795AC[7], NG_054930.1:g.5795AC[8], NG_054930.1:g.5795AC[9], NG_054930.1:g.5795AC[10], NG_054930.1:g.5795AC[11], NG_054930.1:g.5795AC[12], NG_054930.1:g.5795AC[13], NG_054930.1:g.5795AC[14], NG_054930.1:g.5795AC[16], NG_054930.1:g.5795AC[17], NG_054930.1:g.5795AC[18], NG_054930.1:g.5795AC[19], NG_054930.1:g.5795AC[20], XR_001740547.2:n.92AC[7], XR_001740547.2:n.92AC[8], XR_001740547.2:n.92AC[9], XR_001740547.2:n.92AC[10], XR_001740547.2:n.92AC[11], XR_001740547.2:n.92AC[12], XR_001740547.2:n.92AC[13], XR_001740547.2:n.92AC[14], XR_001740547.2:n.92AC[16], XR_001740547.2:n.92AC[17], XR_001740547.2:n.92AC[18], XR_001740547.2:n.92AC[19], XR_001740547.2:n.92AC[20], XR_001740547.1:n.506AC[7], XR_001740547.1:n.506AC[8], XR_001740547.1:n.506AC[9], XR_001740547.1:n.506AC[10], XR_001740547.1:n.506AC[11], XR_001740547.1:n.506AC[12], XR_001740547.1:n.506AC[13], XR_001740547.1:n.506AC[14], XR_001740547.1:n.506AC[16], XR_001740547.1:n.506AC[17], XR_001740547.1:n.506AC[18], XR_001740547.1:n.506AC[19], XR_001740547.1:n.506AC[20]
                8.

                rs1491099676 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  3:196322973 (GRCh38)
                  3:196049844 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:196322972:CA:
                  Gene:
                  TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491090538 has merged into rs113141859 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                    Chromosome:
                    3:196317034 (GRCh38)
                    3:196043905 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                    Gene:
                    DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GTGTGTGTGTGTGT=0./0 (ALFA)
                    HGVS:
                    NC_000003.12:g.196317022GT[6], NC_000003.12:g.196317022GT[7], NC_000003.12:g.196317022GT[8], NC_000003.12:g.196317022GT[9], NC_000003.12:g.196317022GT[10], NC_000003.12:g.196317022GT[11], NC_000003.12:g.196317022GT[13], NC_000003.12:g.196317022GT[14], NC_000003.12:g.196317022GT[15], NC_000003.12:g.196317022GT[16], NC_000003.12:g.196317022GT[17], NC_000003.11:g.196043893GT[6], NC_000003.11:g.196043893GT[7], NC_000003.11:g.196043893GT[8], NC_000003.11:g.196043893GT[9], NC_000003.11:g.196043893GT[10], NC_000003.11:g.196043893GT[11], NC_000003.11:g.196043893GT[13], NC_000003.11:g.196043893GT[14], NC_000003.11:g.196043893GT[15], NC_000003.11:g.196043893GT[16], NC_000003.11:g.196043893GT[17], NG_054930.1:g.6250AC[6], NG_054930.1:g.6250AC[7], NG_054930.1:g.6250AC[8], NG_054930.1:g.6250AC[9], NG_054930.1:g.6250AC[10], NG_054930.1:g.6250AC[11], NG_054930.1:g.6250AC[13], NG_054930.1:g.6250AC[14], NG_054930.1:g.6250AC[15], NG_054930.1:g.6250AC[16], NG_054930.1:g.6250AC[17], XR_001740547.2:n.547AC[6], XR_001740547.2:n.547AC[7], XR_001740547.2:n.547AC[8], XR_001740547.2:n.547AC[9], XR_001740547.2:n.547AC[10], XR_001740547.2:n.547AC[11], XR_001740547.2:n.547AC[13], XR_001740547.2:n.547AC[14], XR_001740547.2:n.547AC[15], XR_001740547.2:n.547AC[16], XR_001740547.2:n.547AC[17], XR_001740547.1:n.961AC[6], XR_001740547.1:n.961AC[7], XR_001740547.1:n.961AC[8], XR_001740547.1:n.961AC[9], XR_001740547.1:n.961AC[10], XR_001740547.1:n.961AC[11], XR_001740547.1:n.961AC[13], XR_001740547.1:n.961AC[14], XR_001740547.1:n.961AC[15], XR_001740547.1:n.961AC[16], XR_001740547.1:n.961AC[17]
                    10.

                    rs1490611632 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:196321512 (GRCh38)
                      3:196048383 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:196321511:G:A
                      Gene:
                      TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490296437 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:196321732 (GRCh38)
                        3:196048603 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:196321731:T:C
                        Gene:
                        TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.00003/8 (TOPMED)
                        C=0.00006/1 (TOMMO)
                        C=0.000546/1 (Korea1K)
                        C=0.001027/3 (KOREAN)
                        T=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1489601357 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          3:196318950 (GRCh38)
                          3:196045821 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:196318949:G:T
                          Gene:
                          DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1489142174 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TTTCA>- [Show Flanks]
                            Chromosome:
                            3:196317263 (GRCh38)
                            3:196044134 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:196317262:TTTCA:
                            Gene:
                            DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.00008/1 (ALFA)
                            -=0./0 (Korea1K)
                            -=0.00005/4 (GnomAD)
                            -=0.00073/10 (TOMMO)
                            HGVS:
                            14.

                            rs1489122374 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GATT [Show Flanks]
                              Chromosome:
                              3:196325866 (GRCh38)
                              3:196052738 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:196325866:TGATT:TGATTGATT
                              Gene:
                              TM4SF19 (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TGATTGATT=0./0 (ALFA)
                              TGAT=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1489060146 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:196324125 (GRCh38)
                                3:196050996 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:196324124:C:T
                                Gene:
                                TM4SF19 (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                T=0.00001/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1488945397 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:196318322 (GRCh38)
                                  3:196045193 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:196318321:G:A
                                  Gene:
                                  DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488822963 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    G>- [Show Flanks]
                                    Chromosome:
                                    3:196316914 (GRCh38)
                                    3:196043785 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:196316913:GG:G
                                    Gene:
                                    DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GG=0.00008/1 (ALFA)
                                    -=0.0005/6 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1488447478 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GGGAAG>- [Show Flanks]
                                      Chromosome:
                                      3:196323720 (GRCh38)
                                      3:196050591 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:196323716:AAGGGGAAG:AAG
                                      Gene:
                                      TM4SF19 (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,downstream_transcript_variant,inframe_deletion,3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAG=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000009/2 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1487797837 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        3:196321353 (GRCh38)
                                        3:196048224 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:196321352:G:C
                                        Gene:
                                        TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487593498 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          3:196324470 (GRCh38)
                                          3:196051341 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:196324469:G:C
                                          Gene:
                                          TM4SF19 (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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