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Items: 1 to 20 of 1889

1.

rs1491543238 has merged into rs34056277 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    9:136727255 (GRCh38)
    9:139621707 (GRCh37)
    Canonical SPDI:
    NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.136727255_136727263del, NC_000009.12:g.136727257_136727263del, NC_000009.12:g.136727258_136727263del, NC_000009.12:g.136727259_136727263del, NC_000009.12:g.136727260_136727263del, NC_000009.12:g.136727261_136727263del, NC_000009.12:g.136727262_136727263del, NC_000009.12:g.136727263del, NC_000009.12:g.136727263dup, NC_000009.12:g.136727262_136727263dup, NC_000009.12:g.136727261_136727263dup, NC_000009.12:g.136727260_136727263dup, NC_000009.11:g.139621707_139621715del, NC_000009.11:g.139621709_139621715del, NC_000009.11:g.139621710_139621715del, NC_000009.11:g.139621711_139621715del, NC_000009.11:g.139621712_139621715del, NC_000009.11:g.139621713_139621715del, NC_000009.11:g.139621714_139621715del, NC_000009.11:g.139621715del, NC_000009.11:g.139621715dup, NC_000009.11:g.139621714_139621715dup, NC_000009.11:g.139621713_139621715dup, NC_000009.11:g.139621712_139621715dup
    2.

    rs1491424617 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      9:136725233 (GRCh38)
      9:139619685 (GRCh37)
      Canonical SPDI:
      NC_000009.12:136725232:TG:
      Gene:
      SNHG7 (Varview), DIPK1B (Varview), LOC124900276 (Varview)
      Functional Consequence:
      500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00067/8 (ALFA)
      HGVS:
      3.

      rs1491375133 has merged into rs1167328192 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        9:136725222 (GRCh38)
        9:139619674 (GRCh37)
        Canonical SPDI:
        NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:136725211:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        SNHG7 (Varview), DIPK1B (Varview), LOC124900276 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0./0 (ALFA)
        -=0.000091/24 (TOPMED)
        HGVS:
        NC_000009.12:g.136725222_136725233del, NC_000009.12:g.136725223_136725233del, NC_000009.12:g.136725224_136725233del, NC_000009.12:g.136725225_136725233del, NC_000009.12:g.136725226_136725233del, NC_000009.12:g.136725227_136725233del, NC_000009.12:g.136725228_136725233del, NC_000009.12:g.136725229_136725233del, NC_000009.12:g.136725230_136725233del, NC_000009.12:g.136725231_136725233del, NC_000009.12:g.136725232_136725233del, NC_000009.12:g.136725233del, NC_000009.12:g.136725233dup, NC_000009.12:g.136725232_136725233dup, NC_000009.12:g.136725231_136725233dup, NC_000009.12:g.136725230_136725233dup, NC_000009.12:g.136725229_136725233dup, NC_000009.12:g.136725228_136725233dup, NC_000009.12:g.136725227_136725233dup, NC_000009.12:g.136725226_136725233dup, NC_000009.12:g.136725225_136725233dup, NC_000009.12:g.136725224_136725233dup, NC_000009.12:g.136725223_136725233dup, NC_000009.12:g.136725222_136725233dup, NC_000009.12:g.136725233_136725234insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.136725233_136725234insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.139619674_139619685del, NC_000009.11:g.139619675_139619685del, NC_000009.11:g.139619676_139619685del, NC_000009.11:g.139619677_139619685del, NC_000009.11:g.139619678_139619685del, NC_000009.11:g.139619679_139619685del, NC_000009.11:g.139619680_139619685del, NC_000009.11:g.139619681_139619685del, NC_000009.11:g.139619682_139619685del, NC_000009.11:g.139619683_139619685del, NC_000009.11:g.139619684_139619685del, NC_000009.11:g.139619685del, NC_000009.11:g.139619685dup, NC_000009.11:g.139619684_139619685dup, NC_000009.11:g.139619683_139619685dup, NC_000009.11:g.139619682_139619685dup, NC_000009.11:g.139619681_139619685dup, NC_000009.11:g.139619680_139619685dup, NC_000009.11:g.139619679_139619685dup, NC_000009.11:g.139619678_139619685dup, NC_000009.11:g.139619677_139619685dup, NC_000009.11:g.139619676_139619685dup, NC_000009.11:g.139619675_139619685dup, NC_000009.11:g.139619674_139619685dup, NC_000009.11:g.139619685_139619686insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.139619685_139619686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        4.

        rs1491283356 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          9:136725211 (GRCh38)
          9:139619663 (GRCh37)
          Canonical SPDI:
          NC_000009.12:136725210:CT:
          Gene:
          SNHG7 (Varview), DIPK1B (Varview), LOC124900276 (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.00003/2 (GnomAD)
          HGVS:
          5.

          rs1490855747 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:136726382 (GRCh38)
            9:139620834 (GRCh37)
            Canonical SPDI:
            NC_000009.12:136726381:A:G
            Gene:
            SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490854453 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              9:136725945 (GRCh38)
              9:139620397 (GRCh37)
              Canonical SPDI:
              NC_000009.12:136725944:CCCC:CCC
              Gene:
              SNHG7 (Varview), SNORA17B (Varview), LOC124900276 (Varview)
              Functional Consequence:
              500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              CCC=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490482146 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                9:136726652 (GRCh38)
                9:139621104 (GRCh37)
                Canonical SPDI:
                NC_000009.12:136726651:C:A
                Gene:
                SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000151/40 (TOPMED)
                A=0.000159/22 (GnomAD)
                HGVS:
                8.

                rs1490395198 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  9:136728286 (GRCh38)
                  9:139622738 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:136728285:A:C,NC_000009.12:136728285:A:G
                  Gene:
                  SNHG7 (Varview), SNORA17A (Varview), LOC124900276 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000066/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1490315230 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    9:136726935 (GRCh38)
                    9:139621387 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:136726934:T:G
                    Gene:
                    SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489872225 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      9:136726578 (GRCh38)
                      9:139621030 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:136726577:C:G,NC_000009.12:136726577:C:T
                      Gene:
                      SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489203847 has merged into rs34056277 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        9:136727255 (GRCh38)
                        9:139621707 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136727244:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000009.12:g.136727255_136727263del, NC_000009.12:g.136727257_136727263del, NC_000009.12:g.136727258_136727263del, NC_000009.12:g.136727259_136727263del, NC_000009.12:g.136727260_136727263del, NC_000009.12:g.136727261_136727263del, NC_000009.12:g.136727262_136727263del, NC_000009.12:g.136727263del, NC_000009.12:g.136727263dup, NC_000009.12:g.136727262_136727263dup, NC_000009.12:g.136727261_136727263dup, NC_000009.12:g.136727260_136727263dup, NC_000009.11:g.139621707_139621715del, NC_000009.11:g.139621709_139621715del, NC_000009.11:g.139621710_139621715del, NC_000009.11:g.139621711_139621715del, NC_000009.11:g.139621712_139621715del, NC_000009.11:g.139621713_139621715del, NC_000009.11:g.139621714_139621715del, NC_000009.11:g.139621715del, NC_000009.11:g.139621715dup, NC_000009.11:g.139621714_139621715dup, NC_000009.11:g.139621713_139621715dup, NC_000009.11:g.139621712_139621715dup
                        12.

                        rs1488876573 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          9:136727506 (GRCh38)
                          9:139621958 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:136727505:C:A,NC_000009.12:136727505:C:G
                          Gene:
                          SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1488631632 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:136727920 (GRCh38)
                            9:139622372 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:136727919:C:T
                            Gene:
                            SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488361481 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              9:136727575 (GRCh38)
                              9:139622027 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:136727574:G:A,NC_000009.12:136727574:G:T
                              Gene:
                              SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              G=0.5/1 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1487968829 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                9:136724947 (GRCh38)
                                9:139619399 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:136724946:G:A,NC_000009.12:136724946:G:T
                                Gene:
                                SNHG7 (Varview), DIPK1B (Varview), LOC124900276 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487151582 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:136728223 (GRCh38)
                                  9:139622675 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:136728222:G:A
                                  Gene:
                                  SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486969967 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    9:136728107 (GRCh38)
                                    9:139622559 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:136728106:C:G
                                    Gene:
                                    SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486825246 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      9:136728434 (GRCh38)
                                      9:139622886 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:136728433:C:G
                                      Gene:
                                      SNHG7 (Varview), SNORA17A (Varview), LOC124900276 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000034/9 (TOPMED)
                                      G=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486716016 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:136727845 (GRCh38)
                                        9:139622297 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:136727844:T:C
                                        Gene:
                                        SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1486187605 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          9:136727576 (GRCh38)
                                          9:139622028 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:136727575:TT:T
                                          Gene:
                                          SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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