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Items: 1 to 20 of 8883

1.

rs1491540006 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    16:23181747 (GRCh38)
    16:23193069 (GRCh37)
    Canonical SPDI:
    NC_000016.10:23181747:AA:AAA
    Gene:
    SCNN1G (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    AAA=0./0 (ALFA)
    HGVS:

    2.

    rs1491484237 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->ATTTTT [Show Flanks]
      Chromosome:
      16:23213253 (GRCh38)
      16:23224575 (GRCh37)
      Canonical SPDI:
      NC_000016.10:23213253:TTTTT:TTTTTATTTTT
      Gene:
      SCNN1G (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTATTTTT=0./0 (ALFA)
      TTTTTA=0.0004/6 (TOMMO)
      HGVS:

      3.

      rs1491373545 has merged into rs376259589 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        16:23213264 (GRCh38)
        16:23224585 (GRCh37)
        Canonical SPDI:
        NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        SCNN1G (Varview)
        Functional Consequence:
        intron_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTT=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        T=0.15/6 (GENOME_DK)
        -=0.375/3 (KOREAN)
        HGVS:
        NC_000016.10:g.23213264_23213273del, NC_000016.10:g.23213266_23213273del, NC_000016.10:g.23213269_23213273del, NC_000016.10:g.23213270_23213273del, NC_000016.10:g.23213271_23213273del, NC_000016.10:g.23213272_23213273del, NC_000016.10:g.23213273del, NC_000016.10:g.23213273dup, NC_000016.10:g.23213272_23213273dup, NC_000016.10:g.23213271_23213273dup, NC_000016.10:g.23213270_23213273dup, NC_000016.10:g.23213269_23213273dup, NC_000016.10:g.23213267_23213273dup, NC_000016.9:g.23224585_23224594del, NC_000016.9:g.23224587_23224594del, NC_000016.9:g.23224590_23224594del, NC_000016.9:g.23224591_23224594del, NC_000016.9:g.23224592_23224594del, NC_000016.9:g.23224593_23224594del, NC_000016.9:g.23224594del, NC_000016.9:g.23224594dup, NC_000016.9:g.23224593_23224594dup, NC_000016.9:g.23224592_23224594dup, NC_000016.9:g.23224591_23224594dup, NC_000016.9:g.23224590_23224594dup, NC_000016.9:g.23224588_23224594dup, NG_011909.1:g.35546_35555del, NG_011909.1:g.35548_35555del, NG_011909.1:g.35551_35555del, NG_011909.1:g.35552_35555del, NG_011909.1:g.35553_35555del, NG_011909.1:g.35554_35555del, NG_011909.1:g.35555del, NG_011909.1:g.35555dup, NG_011909.1:g.35554_35555dup, NG_011909.1:g.35553_35555dup, NG_011909.1:g.35552_35555dup, NG_011909.1:g.35551_35555dup, NG_011909.1:g.35549_35555dup

        4.

        rs1491269530 has merged into rs140419996 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAGGAAGGAAGGAAGGAAGGAAGGAAGG>-,AAGG,AAGGAAGG,AAGGAAGGAAGG,AAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG [Show Flanks]
          Chromosome:
          16:23181772 (GRCh38)
          16:23193093 (GRCh37)
          Canonical SPDI:
          NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG,NC_000016.10:23181743:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG:AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
          Gene:
          SCNN1G (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG=0./0 (ALFA)
          -=0.2506/1255 (1000Genomes)
          AAGG=0.375/15 (GENOME_DK)
          HGVS:
          NC_000016.10:g.23181744AAGG[7], NC_000016.10:g.23181744AAGG[8], NC_000016.10:g.23181744AAGG[9], NC_000016.10:g.23181744AAGG[10], NC_000016.10:g.23181744AAGG[11], NC_000016.10:g.23181744AAGG[12], NC_000016.10:g.23181744AAGG[13], NC_000016.10:g.23181744AAGG[15], NC_000016.10:g.23181744AAGG[16], NC_000016.10:g.23181744AAGG[17], NC_000016.10:g.23181744AAGG[18], NC_000016.10:g.23181744AAGG[19], NC_000016.10:g.23181744AAGG[20], NC_000016.10:g.23181744AAGG[21], NC_000016.10:g.23181744AAGG[22], NC_000016.9:g.23193065AAGG[7], NC_000016.9:g.23193065AAGG[8], NC_000016.9:g.23193065AAGG[9], NC_000016.9:g.23193065AAGG[10], NC_000016.9:g.23193065AAGG[11], NC_000016.9:g.23193065AAGG[12], NC_000016.9:g.23193065AAGG[13], NC_000016.9:g.23193065AAGG[15], NC_000016.9:g.23193065AAGG[16], NC_000016.9:g.23193065AAGG[17], NC_000016.9:g.23193065AAGG[18], NC_000016.9:g.23193065AAGG[19], NC_000016.9:g.23193065AAGG[20], NC_000016.9:g.23193065AAGG[21], NC_000016.9:g.23193065AAGG[22], NG_011909.1:g.4026AAGG[7], NG_011909.1:g.4026AAGG[8], NG_011909.1:g.4026AAGG[9], NG_011909.1:g.4026AAGG[10], NG_011909.1:g.4026AAGG[11], NG_011909.1:g.4026AAGG[12], NG_011909.1:g.4026AAGG[13], NG_011909.1:g.4026AAGG[15], NG_011909.1:g.4026AAGG[16], NG_011909.1:g.4026AAGG[17], NG_011909.1:g.4026AAGG[18], NG_011909.1:g.4026AAGG[19], NG_011909.1:g.4026AAGG[20], NG_011909.1:g.4026AAGG[21], NG_011909.1:g.4026AAGG[22]

          5.

          rs1491242070 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            GA>-
            Chromosome:
            no mapping
            Canonical SPDI:

            6.

            rs1491132342 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,A [Show Flanks]
              Chromosome:
              16:23181744 (GRCh38)
              16:23193065 (GRCh37)
              Canonical SPDI:
              NC_000016.10:23181742:AAA:A,NC_000016.10:23181742:AAA:AA
              Gene:
              SCNN1G (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              AAA=0./0 (ALFA)
              -=0.000009/1 (GnomAD)
              HGVS:

              7.

              rs1491060398 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GG>- [Show Flanks]
                Chromosome:
                16:23181639 (GRCh38)
                16:23192960 (GRCh37)
                Canonical SPDI:
                NC_000016.10:23181638:GG:
                Gene:
                SCNN1G (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:

                8.

                rs1491033023 has merged into rs71151702 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  16:23203779 (GRCh38)
                  16:23215100 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:23203769:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  SCNN1G (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAA=0./0 (ALFA)
                  HGVS:
                  NC_000016.10:g.23203779_23203796del, NC_000016.10:g.23203781_23203796del, NC_000016.10:g.23203782_23203796del, NC_000016.10:g.23203785_23203796del, NC_000016.10:g.23203786_23203796del, NC_000016.10:g.23203787_23203796del, NC_000016.10:g.23203788_23203796del, NC_000016.10:g.23203789_23203796del, NC_000016.10:g.23203790_23203796del, NC_000016.10:g.23203791_23203796del, NC_000016.10:g.23203792_23203796del, NC_000016.10:g.23203793_23203796del, NC_000016.10:g.23203794_23203796del, NC_000016.10:g.23203795_23203796del, NC_000016.10:g.23203796del, NC_000016.10:g.23203796dup, NC_000016.10:g.23203795_23203796dup, NC_000016.10:g.23203794_23203796dup, NC_000016.10:g.23203793_23203796dup, NC_000016.10:g.23203792_23203796dup, NC_000016.10:g.23203791_23203796dup, NC_000016.10:g.23203788_23203796dup, NC_000016.10:g.23203786_23203796dup, NC_000016.10:g.23203784_23203796dup, NC_000016.9:g.23215100_23215117del, NC_000016.9:g.23215102_23215117del, NC_000016.9:g.23215103_23215117del, NC_000016.9:g.23215106_23215117del, NC_000016.9:g.23215107_23215117del, NC_000016.9:g.23215108_23215117del, NC_000016.9:g.23215109_23215117del, NC_000016.9:g.23215110_23215117del, NC_000016.9:g.23215111_23215117del, NC_000016.9:g.23215112_23215117del, NC_000016.9:g.23215113_23215117del, NC_000016.9:g.23215114_23215117del, NC_000016.9:g.23215115_23215117del, NC_000016.9:g.23215116_23215117del, NC_000016.9:g.23215117del, NC_000016.9:g.23215117dup, NC_000016.9:g.23215116_23215117dup, NC_000016.9:g.23215115_23215117dup, NC_000016.9:g.23215114_23215117dup, NC_000016.9:g.23215113_23215117dup, NC_000016.9:g.23215112_23215117dup, NC_000016.9:g.23215109_23215117dup, NC_000016.9:g.23215107_23215117dup, NC_000016.9:g.23215105_23215117dup, NG_011909.1:g.26061_26078del, NG_011909.1:g.26063_26078del, NG_011909.1:g.26064_26078del, NG_011909.1:g.26067_26078del, NG_011909.1:g.26068_26078del, NG_011909.1:g.26069_26078del, NG_011909.1:g.26070_26078del, NG_011909.1:g.26071_26078del, NG_011909.1:g.26072_26078del, NG_011909.1:g.26073_26078del, NG_011909.1:g.26074_26078del, NG_011909.1:g.26075_26078del, NG_011909.1:g.26076_26078del, NG_011909.1:g.26077_26078del, NG_011909.1:g.26078del, NG_011909.1:g.26078dup, NG_011909.1:g.26077_26078dup, NG_011909.1:g.26076_26078dup, NG_011909.1:g.26075_26078dup, NG_011909.1:g.26074_26078dup, NG_011909.1:g.26073_26078dup, NG_011909.1:g.26070_26078dup, NG_011909.1:g.26068_26078dup, NG_011909.1:g.26066_26078dup

                  9.

                  rs1491013483 has merged into rs11309873 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GG>-,G,GGG,GGGG [Show Flanks]
                    Chromosome:
                    16:23181017 (GRCh38)
                    16:23192338 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:23181010:GGGGGGGG:GGGGGG,NC_000016.10:23181010:GGGGGGGG:GGGGGGG,NC_000016.10:23181010:GGGGGGGG:GGGGGGGGG,NC_000016.10:23181010:GGGGGGGG:GGGGGGGGGG
                    Gene:
                    SCNN1G (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GGGGGGGGGG=0./0 (ALFA)
                    -=0.212029/1047 (1000Genomes)
                    -=0.227466/60208 (TOPMED)
                    HGVS:

                    10.

                    rs1490995479 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:23186433 (GRCh38)
                      16:23197754 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:23186432:C:T
                      Gene:
                      SCNN1G (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1490870796 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        16:23208726 (GRCh38)
                        16:23220047 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:23208725:T:G
                        Gene:
                        SCNN1G (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1490859026 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          16:23201354 (GRCh38)
                          16:23212675 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:23201353:C:A
                          Gene:
                          SCNN1G (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1490833432 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:23201581 (GRCh38)
                            16:23212902 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:23201580:A:G
                            Gene:
                            SCNN1G (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.00003/8 (TOPMED)
                            G=0.000035/1 (TOMMO)
                            HGVS:

                            14.

                            rs1490710560 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              16:23186254 (GRCh38)
                              16:23197576 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:23186254:AAA:AAAA
                              Gene:
                              SCNN1G (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1490641988 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                16:23216440 (GRCh38)
                                16:23227761 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:23216439:A:G
                                Gene:
                                SCNN1G (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1490597925 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:23201914 (GRCh38)
                                  16:23213235 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:23201913:T:C
                                  Gene:
                                  SCNN1G (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490582620 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    16:23215934 (GRCh38)
                                    16:23227255 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:23215933:AAA:AA
                                    Gene:
                                    SCNN1G (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AA=0.000224/1 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    -=0.000223/1 (Estonian)
                                    HGVS:

                                    18.

                                    rs1490547267 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      16:23200933 (GRCh38)
                                      16:23212254 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:23200932:A:G
                                      Gene:
                                      SCNN1G (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490524513 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GGAAGAAAGAAA>- [Show Flanks]
                                        Chromosome:
                                        16:23181639 (GRCh38)
                                        16:23192960 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:23181628:AAGAAAGAAAGGAAGAAAGAAA:AAGAAAGAAA
                                        Gene:
                                        SCNN1G (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        AAGAAAGAAA=0.000054/1 (ALFA)
                                        -=0.000022/3 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490297984 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:23197962 (GRCh38)
                                          16:23209283 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:23197961:G:A
                                          Gene:
                                          SCNN1G (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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