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Items: 1 to 20 of 2796

1.

rs1491380373 has merged into rs34468905 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    16:69345689 (GRCh38)
    16:69379592 (GRCh37)
    Canonical SPDI:
    NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    TMED6 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000016.10:g.69345689_69345706del, NC_000016.10:g.69345690_69345706del, NC_000016.10:g.69345691_69345706del, NC_000016.10:g.69345692_69345706del, NC_000016.10:g.69345693_69345706del, NC_000016.10:g.69345694_69345706del, NC_000016.10:g.69345695_69345706del, NC_000016.10:g.69345696_69345706del, NC_000016.10:g.69345697_69345706del, NC_000016.10:g.69345698_69345706del, NC_000016.10:g.69345699_69345706del, NC_000016.10:g.69345700_69345706del, NC_000016.10:g.69345701_69345706del, NC_000016.10:g.69345702_69345706del, NC_000016.10:g.69345703_69345706del, NC_000016.10:g.69345704_69345706del, NC_000016.10:g.69345705_69345706del, NC_000016.10:g.69345706del, NC_000016.10:g.69345706dup, NC_000016.10:g.69345705_69345706dup, NC_000016.10:g.69345704_69345706dup, NC_000016.10:g.69345703_69345706dup, NC_000016.10:g.69345702_69345706dup, NC_000016.10:g.69345701_69345706dup, NC_000016.10:g.69345700_69345706dup, NC_000016.10:g.69345699_69345706dup, NC_000016.10:g.69345698_69345706dup, NC_000016.10:g.69345697_69345706dup, NC_000016.10:g.69345686_69345706dup, NC_000016.10:g.69345685_69345706dup, NC_000016.10:g.69345706_69345707insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69345679_69345706A[35]GGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.69379592_69379609del, NC_000016.9:g.69379593_69379609del, NC_000016.9:g.69379594_69379609del, NC_000016.9:g.69379595_69379609del, NC_000016.9:g.69379596_69379609del, NC_000016.9:g.69379597_69379609del, NC_000016.9:g.69379598_69379609del, NC_000016.9:g.69379599_69379609del, NC_000016.9:g.69379600_69379609del, NC_000016.9:g.69379601_69379609del, NC_000016.9:g.69379602_69379609del, NC_000016.9:g.69379603_69379609del, NC_000016.9:g.69379604_69379609del, NC_000016.9:g.69379605_69379609del, NC_000016.9:g.69379606_69379609del, NC_000016.9:g.69379607_69379609del, NC_000016.9:g.69379608_69379609del, NC_000016.9:g.69379609del, NC_000016.9:g.69379609dup, NC_000016.9:g.69379608_69379609dup, NC_000016.9:g.69379607_69379609dup, NC_000016.9:g.69379606_69379609dup, NC_000016.9:g.69379605_69379609dup, NC_000016.9:g.69379604_69379609dup, NC_000016.9:g.69379603_69379609dup, NC_000016.9:g.69379602_69379609dup, NC_000016.9:g.69379601_69379609dup, NC_000016.9:g.69379600_69379609dup, NC_000016.9:g.69379589_69379609dup, NC_000016.9:g.69379588_69379609dup, NC_000016.9:g.69379609_69379610insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69379582_69379609A[35]GGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

    2.

    rs1491288146 has merged into rs869183722 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      16:69345678 (GRCh38)
      16:69379581 (GRCh37)
      Canonical SPDI:
      NC_000016.10:69345677:CA:
      Gene:
      TMED6 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:

      3.

      rs1490990769 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GTCTGGGA>- [Show Flanks]
        Chromosome:
        16:69353595 (GRCh38)
        16:69387498 (GRCh37)
        Canonical SPDI:
        NC_000016.10:69353592:GAGTCTGGGA:GA
        Gene:
        TMED6 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GA=0./0 (ALFA)
        -=0.000014/2 (GnomAD)
        -=0.000026/7 (TOPMED)
        HGVS:

        4.

        rs1490678381 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          16:69352569 (GRCh38)
          16:69386472 (GRCh37)
          Canonical SPDI:
          NC_000016.10:69352568:G:C
          Gene:
          TMED6 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (TOPMED)
          HGVS:

          5.

          rs1490481100 has merged into rs34468905 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            16:69345689 (GRCh38)
            16:69379592 (GRCh37)
            Canonical SPDI:
            NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            TMED6 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000016.10:g.69345689_69345706del, NC_000016.10:g.69345690_69345706del, NC_000016.10:g.69345691_69345706del, NC_000016.10:g.69345692_69345706del, NC_000016.10:g.69345693_69345706del, NC_000016.10:g.69345694_69345706del, NC_000016.10:g.69345695_69345706del, NC_000016.10:g.69345696_69345706del, NC_000016.10:g.69345697_69345706del, NC_000016.10:g.69345698_69345706del, NC_000016.10:g.69345699_69345706del, NC_000016.10:g.69345700_69345706del, NC_000016.10:g.69345701_69345706del, NC_000016.10:g.69345702_69345706del, NC_000016.10:g.69345703_69345706del, NC_000016.10:g.69345704_69345706del, NC_000016.10:g.69345705_69345706del, NC_000016.10:g.69345706del, NC_000016.10:g.69345706dup, NC_000016.10:g.69345705_69345706dup, NC_000016.10:g.69345704_69345706dup, NC_000016.10:g.69345703_69345706dup, NC_000016.10:g.69345702_69345706dup, NC_000016.10:g.69345701_69345706dup, NC_000016.10:g.69345700_69345706dup, NC_000016.10:g.69345699_69345706dup, NC_000016.10:g.69345698_69345706dup, NC_000016.10:g.69345697_69345706dup, NC_000016.10:g.69345686_69345706dup, NC_000016.10:g.69345685_69345706dup, NC_000016.10:g.69345706_69345707insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69345679_69345706A[35]GGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.69379592_69379609del, NC_000016.9:g.69379593_69379609del, NC_000016.9:g.69379594_69379609del, NC_000016.9:g.69379595_69379609del, NC_000016.9:g.69379596_69379609del, NC_000016.9:g.69379597_69379609del, NC_000016.9:g.69379598_69379609del, NC_000016.9:g.69379599_69379609del, NC_000016.9:g.69379600_69379609del, NC_000016.9:g.69379601_69379609del, NC_000016.9:g.69379602_69379609del, NC_000016.9:g.69379603_69379609del, NC_000016.9:g.69379604_69379609del, NC_000016.9:g.69379605_69379609del, NC_000016.9:g.69379606_69379609del, NC_000016.9:g.69379607_69379609del, NC_000016.9:g.69379608_69379609del, NC_000016.9:g.69379609del, NC_000016.9:g.69379609dup, NC_000016.9:g.69379608_69379609dup, NC_000016.9:g.69379607_69379609dup, NC_000016.9:g.69379606_69379609dup, NC_000016.9:g.69379605_69379609dup, NC_000016.9:g.69379604_69379609dup, NC_000016.9:g.69379603_69379609dup, NC_000016.9:g.69379602_69379609dup, NC_000016.9:g.69379601_69379609dup, NC_000016.9:g.69379600_69379609dup, NC_000016.9:g.69379589_69379609dup, NC_000016.9:g.69379588_69379609dup, NC_000016.9:g.69379609_69379610insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69379582_69379609A[35]GGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

            6.

            rs1490395350 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:69347503 (GRCh38)
              16:69381406 (GRCh37)
              Canonical SPDI:
              NC_000016.10:69347502:G:A
              Gene:
              TMED6 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000015/4 (TOPMED)
              HGVS:

              7.

              rs1489313085 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:69350796 (GRCh38)
                16:69384699 (GRCh37)
                Canonical SPDI:
                NC_000016.10:69350795:G:A
                Gene:
                TMED6 (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:

                8.

                rs1489197087 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:69352045 (GRCh38)
                  16:69385948 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:69352044:T:C
                  Gene:
                  TMED6 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000432/8 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000064/9 (GnomAD)
                  C=0.001786/8 (Estonian)
                  HGVS:

                  9.

                  rs1489132258 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    16:69349238 (GRCh38)
                    16:69383141 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:69349234:TCTCT:TCT
                    Gene:
                    TMED6 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TCT=0.000071/1 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000014/2 (GnomAD)
                    HGVS:

                    10.

                    rs1488920625 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      16:69352182 (GRCh38)
                      16:69386085 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:69352181:CCCC:CCC
                      Gene:
                      TMED6 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CCC=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1488414480 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AA>- [Show Flanks]
                        Chromosome:
                        16:69346019 (GRCh38)
                        16:69379922 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:69346018:AA:
                        Gene:
                        TMED6 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1488309566 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:69351758 (GRCh38)
                          16:69385661 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:69351757:C:T
                          Gene:
                          TMED6 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1487969210 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            16:69345096 (GRCh38)
                            16:69378999 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:69345095:T:
                            Gene:
                            TMED6 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1487838343 has merged into rs34468905 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              16:69345689 (GRCh38)
                              16:69379592 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69345678:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              TMED6 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAA=0./0 (ALFA)
                              HGVS:
                              NC_000016.10:g.69345689_69345706del, NC_000016.10:g.69345690_69345706del, NC_000016.10:g.69345691_69345706del, NC_000016.10:g.69345692_69345706del, NC_000016.10:g.69345693_69345706del, NC_000016.10:g.69345694_69345706del, NC_000016.10:g.69345695_69345706del, NC_000016.10:g.69345696_69345706del, NC_000016.10:g.69345697_69345706del, NC_000016.10:g.69345698_69345706del, NC_000016.10:g.69345699_69345706del, NC_000016.10:g.69345700_69345706del, NC_000016.10:g.69345701_69345706del, NC_000016.10:g.69345702_69345706del, NC_000016.10:g.69345703_69345706del, NC_000016.10:g.69345704_69345706del, NC_000016.10:g.69345705_69345706del, NC_000016.10:g.69345706del, NC_000016.10:g.69345706dup, NC_000016.10:g.69345705_69345706dup, NC_000016.10:g.69345704_69345706dup, NC_000016.10:g.69345703_69345706dup, NC_000016.10:g.69345702_69345706dup, NC_000016.10:g.69345701_69345706dup, NC_000016.10:g.69345700_69345706dup, NC_000016.10:g.69345699_69345706dup, NC_000016.10:g.69345698_69345706dup, NC_000016.10:g.69345697_69345706dup, NC_000016.10:g.69345686_69345706dup, NC_000016.10:g.69345685_69345706dup, NC_000016.10:g.69345706_69345707insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.69345679_69345706A[35]GGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.69379592_69379609del, NC_000016.9:g.69379593_69379609del, NC_000016.9:g.69379594_69379609del, NC_000016.9:g.69379595_69379609del, NC_000016.9:g.69379596_69379609del, NC_000016.9:g.69379597_69379609del, NC_000016.9:g.69379598_69379609del, NC_000016.9:g.69379599_69379609del, NC_000016.9:g.69379600_69379609del, NC_000016.9:g.69379601_69379609del, NC_000016.9:g.69379602_69379609del, NC_000016.9:g.69379603_69379609del, NC_000016.9:g.69379604_69379609del, NC_000016.9:g.69379605_69379609del, NC_000016.9:g.69379606_69379609del, NC_000016.9:g.69379607_69379609del, NC_000016.9:g.69379608_69379609del, NC_000016.9:g.69379609del, NC_000016.9:g.69379609dup, NC_000016.9:g.69379608_69379609dup, NC_000016.9:g.69379607_69379609dup, NC_000016.9:g.69379606_69379609dup, NC_000016.9:g.69379605_69379609dup, NC_000016.9:g.69379604_69379609dup, NC_000016.9:g.69379603_69379609dup, NC_000016.9:g.69379602_69379609dup, NC_000016.9:g.69379601_69379609dup, NC_000016.9:g.69379600_69379609dup, NC_000016.9:g.69379589_69379609dup, NC_000016.9:g.69379588_69379609dup, NC_000016.9:g.69379609_69379610insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.69379582_69379609A[35]GGACAAACTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

                              15.

                              rs1487810280 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                16:69345361 (GRCh38)
                                16:69379264 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:69345360:C:T
                                Gene:
                                TMED6 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000108/2 (ALFA)
                                T=0.000086/12 (GnomAD)
                                T=0.000223/1 (Estonian)
                                HGVS:

                                16.

                                rs1487570229 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C,T [Show Flanks]
                                  Chromosome:
                                  16:69345407 (GRCh38)
                                  16:69379310 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:69345406:G:A,NC_000016.10:69345406:G:C,NC_000016.10:69345406:G:T
                                  Gene:
                                  TMED6 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  T=0.000156/1 (1000Genomes)
                                  T=0.000389/7 (TOMMO)
                                  HGVS:

                                  17.

                                  rs1487295674 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:69353136 (GRCh38)
                                    16:69387039 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:69353135:C:T
                                    Gene:
                                    TMED6 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000015/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1487117870 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:69344453 (GRCh38)
                                      16:69378356 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:69344452:T:C
                                      Gene:
                                      TMED6 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000224/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000223/1 (Estonian)
                                      HGVS:

                                      19.

                                      rs1486691767 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        16:69353149 (GRCh38)
                                        16:69387052 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:69353148:A:C
                                        Gene:
                                        TMED6 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1486286034 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:69348950 (GRCh38)
                                          16:69382853 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:69348949:G:A
                                          Gene:
                                          TMED6 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000224/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000223/1 (Estonian)
                                          HGVS:

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