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Items: 1 to 20 of 108747

1.

rs1491571384 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GT,GTGT [Show Flanks]
    Chromosome:
    8:118165604 (GRCh38)
    8:119177844 (GRCh37)
    Canonical SPDI:
    NC_000008.11:118165604:T:TGT,NC_000008.11:118165604:T:TGTGT
    Gene:
    SAMD12 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGT=0./0 (ALFA)
    TG=0.000004/1 (TOPMED)
    TGTG=0.000731/26 (GnomAD)
    HGVS:

    2.

    rs1491562482 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      8:118449798 (GRCh38)
      8:119462037 (GRCh37)
      Canonical SPDI:
      NC_000008.11:118449797:CA:
      Gene:
      SAMD12 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:

      3.

      rs1491538579 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        8:118463100 (GRCh38)
        8:119475339 (GRCh37)
        Canonical SPDI:
        NC_000008.11:118463099:CA:
        Gene:
        SAMD12 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:

        4.

        rs1491535657 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          8:118287122 (GRCh38)
          8:119299361 (GRCh37)
          Canonical SPDI:
          NC_000008.11:118287119:ATAT:AT
          Gene:
          SAMD12 (Varview), LOC105375724 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATAT=0.015849/188 (ALFA)
          -=0.021593/2740 (GnomAD)
          -=0.022798/146 (1000Genomes)
          HGVS:

          5.

          rs1491533449 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            8:118177744 (GRCh38)
            8:119189983 (GRCh37)
            Canonical SPDI:
            NC_000008.11:118177742:ACA:A
            Gene:
            SAMD12 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            -=0.000019/5 (TOPMED)
            -=0.000035/1 (TOMMO)
            -=0.000042/4 (GnomAD)
            HGVS:

            6.

            rs1491512492 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              8:118469516 (GRCh38)
              8:119481755 (GRCh37)
              Canonical SPDI:
              NC_000008.11:118469515:AA:
              Gene:
              SAMD12 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:

              7.

              rs1491507496 has merged into rs58224508 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
                Chromosome:
                8:118470263 (GRCh38)
                8:119482502 (GRCh37)
                Canonical SPDI:
                NC_000008.11:118470257:AAAAAAAAA:AAAAA,NC_000008.11:118470257:AAAAAAAAA:AAAAAA,NC_000008.11:118470257:AAAAAAAAA:AAAAAAA,NC_000008.11:118470257:AAAAAAAAA:AAAAAAAA,NC_000008.11:118470257:AAAAAAAAA:AAAAAAAAAA
                Gene:
                SAMD12 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAA=0./0 (ALFA)
                -=0.01747/32 (Korea1K)
                -=0.03875/649 (TOMMO)
                -=0.16613/832 (1000Genomes)
                HGVS:

                8.

                rs1491493025 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  8:118184176 (GRCh38)
                  8:119196416 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:118184176::G
                  Gene:
                  SAMD12 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1491478463 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    8:118492122 (GRCh38)
                    8:119504361 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:118492121:CT:
                    Gene:
                    SAMD12 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000068/7 (GnomAD)
                    HGVS:

                    10.

                    rs1491469424 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->T,TAAT,TAATAT,TAATATATATT,TAT,TT [Show Flanks]
                      Chromosome:
                      8:118469516 (GRCh38)
                      8:119481756 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:118469516::T,NC_000008.11:118469516::TAAT,NC_000008.11:118469516::TAATAT,NC_000008.11:118469516::TAATATATATT,NC_000008.11:118469516::TAT,NC_000008.11:118469516::TT
                      Gene:
                      SAMD12 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TAAT=0./0 (ALFA)
                      TAATATATATT=0.0045/1 (GnomAD)
                      HGVS:

                      11.

                      rs1491458498 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->AAA [Show Flanks]
                        Chromosome:
                        8:118192618 (GRCh38)
                        8:119204858 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:118192618::AAA
                        Gene:
                        SAMD12 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        AAA=0.000153/20 (GnomAD)
                        AAA=0.001734/29 (TOMMO)
                        HGVS:

                        12.

                        rs1491457421 has merged into rs1187043376 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AGAGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
                          Chromosome:
                          8:118191830 (GRCh38)
                          8:119204069 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000008.11:118191811:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
                          Gene:
                          SAMD12 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AGAGAGAGAGAGAGAGAG=0./0 (ALFA)
                          HGVS:
                          NC_000008.11:g.118191812AG[9], NC_000008.11:g.118191812AG[10], NC_000008.11:g.118191812AG[11], NC_000008.11:g.118191812AG[12], NC_000008.11:g.118191812AG[13], NC_000008.11:g.118191812AG[14], NC_000008.11:g.118191812AG[15], NC_000008.11:g.118191812AG[16], NC_000008.11:g.118191812AG[17], NC_000008.11:g.118191812AG[18], NC_000008.11:g.118191812AG[19], NC_000008.11:g.118191812AG[22], NC_000008.11:g.118191812AG[23], NC_000008.11:g.118191812AG[24], NC_000008.11:g.118191812AG[25], NC_000008.11:g.118191812AG[26], NC_000008.11:g.118191812AG[27], NC_000008.11:g.118191812AG[28], NC_000008.11:g.118191812AG[29], NC_000008.11:g.118191812AG[30], NC_000008.11:g.118191812AG[31], NC_000008.11:g.118191812AG[33], NC_000008.10:g.119204051AG[9], NC_000008.10:g.119204051AG[10], NC_000008.10:g.119204051AG[11], NC_000008.10:g.119204051AG[12], NC_000008.10:g.119204051AG[13], NC_000008.10:g.119204051AG[14], NC_000008.10:g.119204051AG[15], NC_000008.10:g.119204051AG[16], NC_000008.10:g.119204051AG[17], NC_000008.10:g.119204051AG[18], NC_000008.10:g.119204051AG[19], NC_000008.10:g.119204051AG[22], NC_000008.10:g.119204051AG[23], NC_000008.10:g.119204051AG[24], NC_000008.10:g.119204051AG[25], NC_000008.10:g.119204051AG[26], NC_000008.10:g.119204051AG[27], NC_000008.10:g.119204051AG[28], NC_000008.10:g.119204051AG[29], NC_000008.10:g.119204051AG[30], NC_000008.10:g.119204051AG[31], NC_000008.10:g.119204051AG[33], NR_109794.3:n.6332CT[9], NR_109794.3:n.6332CT[10], NR_109794.3:n.6332CT[11], NR_109794.3:n.6332CT[12], NR_109794.3:n.6332CT[13], NR_109794.3:n.6332CT[14], NR_109794.3:n.6332CT[15], NR_109794.3:n.6332CT[16], NR_109794.3:n.6332CT[17], NR_109794.3:n.6332CT[18], NR_109794.3:n.6332CT[19], NR_109794.3:n.6332CT[22], NR_109794.3:n.6332CT[23], NR_109794.3:n.6332CT[24], NR_109794.3:n.6332CT[25], NR_109794.3:n.6332CT[26], NR_109794.3:n.6332CT[27], NR_109794.3:n.6332CT[28], NR_109794.3:n.6332CT[29], NR_109794.3:n.6332CT[30], NR_109794.3:n.6332CT[31], NR_109794.3:n.6332CT[33], NR_109794.2:n.6357CT[9], NR_109794.2:n.6357CT[10], NR_109794.2:n.6357CT[11], NR_109794.2:n.6357CT[12], NR_109794.2:n.6357CT[13], NR_109794.2:n.6357CT[14], NR_109794.2:n.6357CT[15], NR_109794.2:n.6357CT[16], NR_109794.2:n.6357CT[17], NR_109794.2:n.6357CT[18], NR_109794.2:n.6357CT[19], NR_109794.2:n.6357CT[22], NR_109794.2:n.6357CT[23], NR_109794.2:n.6357CT[24], NR_109794.2:n.6357CT[25], NR_109794.2:n.6357CT[26], NR_109794.2:n.6357CT[27], NR_109794.2:n.6357CT[28], NR_109794.2:n.6357CT[29], NR_109794.2:n.6357CT[30], NR_109794.2:n.6357CT[31], NR_109794.2:n.6357CT[33], NR_109794.1:n.6389CT[9], NR_109794.1:n.6389CT[10], NR_109794.1:n.6389CT[11], NR_109794.1:n.6389CT[12], NR_109794.1:n.6389CT[13], NR_109794.1:n.6389CT[14], NR_109794.1:n.6389CT[15], NR_109794.1:n.6389CT[16], NR_109794.1:n.6389CT[17], NR_109794.1:n.6389CT[18], NR_109794.1:n.6389CT[19], NR_109794.1:n.6389CT[22], NR_109794.1:n.6389CT[23], NR_109794.1:n.6389CT[24], NR_109794.1:n.6389CT[25], NR_109794.1:n.6389CT[26], NR_109794.1:n.6389CT[27], NR_109794.1:n.6389CT[28], NR_109794.1:n.6389CT[29], NR_109794.1:n.6389CT[30], NR_109794.1:n.6389CT[31], NR_109794.1:n.6389CT[33], NM_001101676.2:c.*5859CT[9], NM_001101676.2:c.*5859CT[10], NM_001101676.2:c.*5859CT[11], NM_001101676.2:c.*5859CT[12], NM_001101676.2:c.*5859CT[13], NM_001101676.2:c.*5859CT[14], NM_001101676.2:c.*5859CT[15], NM_001101676.2:c.*5859CT[16], NM_001101676.2:c.*5859CT[17], NM_001101676.2:c.*5859CT[18], NM_001101676.2:c.*5859CT[19], NM_001101676.2:c.*5859CT[22], NM_001101676.2:c.*5859CT[23], NM_001101676.2:c.*5859CT[24], NM_001101676.2:c.*5859CT[25], NM_001101676.2:c.*5859CT[26], NM_001101676.2:c.*5859CT[27], NM_001101676.2:c.*5859CT[28], NM_001101676.2:c.*5859CT[29], NM_001101676.2:c.*5859CT[30], NM_001101676.2:c.*5859CT[31], NM_001101676.2:c.*5859CT[33], NM_001101676.1:c.*5859CT[9], NM_001101676.1:c.*5859CT[10], NM_001101676.1:c.*5859CT[11], NM_001101676.1:c.*5859CT[12], NM_001101676.1:c.*5859CT[13], NM_001101676.1:c.*5859CT[14], NM_001101676.1:c.*5859CT[15], NM_001101676.1:c.*5859CT[16], NM_001101676.1:c.*5859CT[17], NM_001101676.1:c.*5859CT[18], NM_001101676.1:c.*5859CT[19], NM_001101676.1:c.*5859CT[22], NM_001101676.1:c.*5859CT[23], NM_001101676.1:c.*5859CT[24], NM_001101676.1:c.*5859CT[25], NM_001101676.1:c.*5859CT[26], NM_001101676.1:c.*5859CT[27], NM_001101676.1:c.*5859CT[28], NM_001101676.1:c.*5859CT[29], NM_001101676.1:c.*5859CT[30], NM_001101676.1:c.*5859CT[31], NM_001101676.1:c.*5859CT[33], NM_001349811.2:c.*5859CT[9], NM_001349811.2:c.*5859CT[10], NM_001349811.2:c.*5859CT[11], NM_001349811.2:c.*5859CT[12], NM_001349811.2:c.*5859CT[13], NM_001349811.2:c.*5859CT[14], NM_001349811.2:c.*5859CT[15], NM_001349811.2:c.*5859CT[16], NM_001349811.2:c.*5859CT[17], NM_001349811.2:c.*5859CT[18], NM_001349811.2:c.*5859CT[19], NM_001349811.2:c.*5859CT[22], NM_001349811.2:c.*5859CT[23], NM_001349811.2:c.*5859CT[24], NM_001349811.2:c.*5859CT[25], NM_001349811.2:c.*5859CT[26], NM_001349811.2:c.*5859CT[27], NM_001349811.2:c.*5859CT[28], NM_001349811.2:c.*5859CT[29], NM_001349811.2:c.*5859CT[30], NM_001349811.2:c.*5859CT[31], NM_001349811.2:c.*5859CT[33], NM_001349811.1:c.*5859CT[9], NM_001349811.1:c.*5859CT[10], NM_001349811.1:c.*5859CT[11], NM_001349811.1:c.*5859CT[12], NM_001349811.1:c.*5859CT[13], NM_001349811.1:c.*5859CT[14], NM_001349811.1:c.*5859CT[15], NM_001349811.1:c.*5859CT[16], NM_001349811.1:c.*5859CT[17], NM_001349811.1:c.*5859CT[18], NM_001349811.1:c.*5859CT[19], NM_001349811.1:c.*5859CT[22], NM_001349811.1:c.*5859CT[23], NM_001349811.1:c.*5859CT[24], NM_001349811.1:c.*5859CT[25], NM_001349811.1:c.*5859CT[26], NM_001349811.1:c.*5859CT[27], NM_001349811.1:c.*5859CT[28], NM_001349811.1:c.*5859CT[29], NM_001349811.1:c.*5859CT[30], NM_001349811.1:c.*5859CT[31], NM_001349811.1:c.*5859CT[33]

                          13.

                          rs1491451065 has merged into rs543720456 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            8:118492136 (GRCh38)
                            8:119504375 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118492122:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            SAMD12 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTTTTT=0./0 (ALFA)
                            HGVS:
                            NC_000008.11:g.118492136_118492139del, NC_000008.11:g.118492137_118492139del, NC_000008.11:g.118492138_118492139del, NC_000008.11:g.118492139del, NC_000008.11:g.118492139dup, NC_000008.11:g.118492138_118492139dup, NC_000008.11:g.118492137_118492139dup, NC_000008.11:g.118492136_118492139dup, NC_000008.11:g.118492133_118492139dup, NC_000008.11:g.118492132_118492139dup, NC_000008.11:g.118492131_118492139dup, NC_000008.11:g.118492130_118492139dup, NC_000008.11:g.118492128_118492139dup, NC_000008.11:g.118492127_118492139dup, NC_000008.11:g.118492123_118492139dup, NC_000008.11:g.118492123_118492139T[35]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.118492139_118492140insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.118492139_118492140insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.118492139_118492140insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.119504375_119504378del, NC_000008.10:g.119504376_119504378del, NC_000008.10:g.119504377_119504378del, NC_000008.10:g.119504378del, NC_000008.10:g.119504378dup, NC_000008.10:g.119504377_119504378dup, NC_000008.10:g.119504376_119504378dup, NC_000008.10:g.119504375_119504378dup, NC_000008.10:g.119504372_119504378dup, NC_000008.10:g.119504371_119504378dup, NC_000008.10:g.119504370_119504378dup, NC_000008.10:g.119504369_119504378dup, NC_000008.10:g.119504367_119504378dup, NC_000008.10:g.119504366_119504378dup, NC_000008.10:g.119504362_119504378dup, NC_000008.10:g.119504362_119504378T[35]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.119504378_119504379insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.119504378_119504379insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.119504378_119504379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                            14.

                            rs1491440620 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->A,AA [Show Flanks]
                              Chromosome:
                              8:118472885 (GRCh38)
                              8:119485125 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:118472885::A,NC_000008.11:118472885::AA
                              Gene:
                              SAMD12 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AA=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1491430456 has merged into rs11428909 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                8:118207938 (GRCh38)
                                8:119220177 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:118207928:TTTTTTTTTTT:TTTTTTTTT,NC_000008.11:118207928:TTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:118207928:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:118207928:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:118207928:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:118207928:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:118207928:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:118207928:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                SAMD12 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTTTTT=0./0 (ALFA)
                                T=0.4827/1564 (1000Genomes)
                                HGVS:

                                16.

                                rs1491429540 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GGTG [Show Flanks]
                                  Chromosome:
                                  8:118132961 (GRCh38)
                                  8:119145201 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:118132961:GTG:GTGGGTG
                                  Gene:
                                  SAMD12 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GTGGGTG=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1491420359 has merged into rs35418863 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    8:118316827 (GRCh38)
                                    8:119329066 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:118316816:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    SAMD12 (Varview), LOC105375724 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTT=0./0 (ALFA)
                                    HGVS:
                                    NC_000008.11:g.118316827_118316835del, NC_000008.11:g.118316828_118316835del, NC_000008.11:g.118316829_118316835del, NC_000008.11:g.118316832_118316835del, NC_000008.11:g.118316833_118316835del, NC_000008.11:g.118316834_118316835del, NC_000008.11:g.118316835del, NC_000008.11:g.118316835dup, NC_000008.11:g.118316834_118316835dup, NC_000008.11:g.118316833_118316835dup, NC_000008.11:g.118316832_118316835dup, NC_000008.11:g.118316831_118316835dup, NC_000008.11:g.118316822_118316835dup, NC_000008.10:g.119329066_119329074del, NC_000008.10:g.119329067_119329074del, NC_000008.10:g.119329068_119329074del, NC_000008.10:g.119329071_119329074del, NC_000008.10:g.119329072_119329074del, NC_000008.10:g.119329073_119329074del, NC_000008.10:g.119329074del, NC_000008.10:g.119329074dup, NC_000008.10:g.119329073_119329074dup, NC_000008.10:g.119329072_119329074dup, NC_000008.10:g.119329071_119329074dup, NC_000008.10:g.119329070_119329074dup, NC_000008.10:g.119329061_119329074dup

                                    18.

                                    rs1491418151 has merged into rs900815536 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT [Show Flanks]
                                      Chromosome:
                                      8:118215472 (GRCh38)
                                      8:119227711 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:118215465:TTTTTTTTTTT:TTTTTT,NC_000008.11:118215465:TTTTTTTTTTT:TTTTTTT,NC_000008.11:118215465:TTTTTTTTTTT:TTTTTTTT,NC_000008.11:118215465:TTTTTTTTTTT:TTTTTTTTT,NC_000008.11:118215465:TTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:118215465:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:118215465:TTTTTTTTTTT:TTTTTTTTTTTTTT
                                      Gene:
                                      SAMD12 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      NC_000008.11:g.118215472_118215476del, NC_000008.11:g.118215473_118215476del, NC_000008.11:g.118215474_118215476del, NC_000008.11:g.118215475_118215476del, NC_000008.11:g.118215476del, NC_000008.11:g.118215476dup, NC_000008.11:g.118215474_118215476dup, NC_000008.10:g.119227711_119227715del, NC_000008.10:g.119227712_119227715del, NC_000008.10:g.119227713_119227715del, NC_000008.10:g.119227714_119227715del, NC_000008.10:g.119227715del, NC_000008.10:g.119227715dup, NC_000008.10:g.119227713_119227715dup, XR_007060732.1:n.2130_2134del, XR_007060732.1:n.2131_2134del, XR_007060732.1:n.2132_2134del, XR_007060732.1:n.2133_2134del, XR_007060732.1:n.2134del, XR_007060732.1:n.2134dup, XR_007060732.1:n.2132_2134dup, XR_007060733.1:n.2011_2015del, XR_007060733.1:n.2012_2015del, XR_007060733.1:n.2013_2015del, XR_007060733.1:n.2014_2015del, XR_007060733.1:n.2015del, XR_007060733.1:n.2015dup, XR_007060733.1:n.2013_2015dup

                                      19.

                                      rs1491389196 has merged into rs1453457283 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AT>-,ATAT [Show Flanks]
                                        Chromosome:
                                        8:118165612 (GRCh38)
                                        8:119177851 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:118165603:ATATATATAT:ATATATAT,NC_000008.11:118165603:ATATATATAT:ATATATATATAT
                                        Gene:
                                        SAMD12 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        ATATATATATAT=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1491370440 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->G,T [Show Flanks]
                                          Chromosome:
                                          8:118321143 (GRCh38)
                                          8:119333383 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:118321143::G,NC_000008.11:118321143::T
                                          Gene:
                                          SAMD12 (Varview), LOC105375724 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.00793/12 (Korea1K)
                                          T=0.01146/189 (TOMMO)
                                          HGVS:

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