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Items: 1 to 20 of 757

1.

rs1490902498 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:70615500 (GRCh38)
    15:70907839 (GRCh37)
    Canonical SPDI:
    NC_000015.10:70615499:C:T
    Gene:
    SALRNA3 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000045/12 (TOPMED)
    HGVS:
    2.

    rs1489738691 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GAT [Show Flanks]
      Chromosome:
      15:70614552 (GRCh38)
      15:70906892 (GRCh37)
      Canonical SPDI:
      NC_000015.10:70614552:GAT:GATGAT
      Gene:
      SALRNA3 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      GATGAT=0./0 (ALFA)
      GAT=0.00009/1 (GnomAD)
      HGVS:
      3.

      rs1489666948 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        15:70616675 (GRCh38)
        15:70909014 (GRCh37)
        Canonical SPDI:
        NC_000015.10:70616674:C:T
        Gene:
        SALRNA3 (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489551321 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:70616221 (GRCh38)
          15:70908560 (GRCh37)
          Canonical SPDI:
          NC_000015.10:70616220:C:T
          Gene:
          SALRNA3 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489120093 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C [Show Flanks]
            Chromosome:
            15:70616074 (GRCh38)
            15:70908413 (GRCh37)
            Canonical SPDI:
            NC_000015.10:70616073:T:A,NC_000015.10:70616073:T:C
            Gene:
            SALRNA3 (Varview)
            Functional Consequence:
            non_coding_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:
            6.

            rs1487915794 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              15:70615722 (GRCh38)
              15:70908061 (GRCh37)
              Canonical SPDI:
              NC_000015.10:70615721:T:C
              Gene:
              SALRNA3 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487769508 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                15:70616608 (GRCh38)
                15:70908947 (GRCh37)
                Canonical SPDI:
                NC_000015.10:70616607:G:A
                Gene:
                SALRNA3 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_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.

                rs1487762830 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:70616483 (GRCh38)
                  15:70908822 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:70616482:C:T
                  Gene:
                  SALRNA3 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000447/2 (ALFA)
                  T=0.000014/2 (GnomAD)
                  T=0.000446/2 (Estonian)
                  HGVS:
                  9.

                  rs1485996332 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    15:70613873 (GRCh38)
                    15:70906212 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:70613872:G:A
                    Gene:
                    SALRNA3 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1485987015 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      15:70616236 (GRCh38)
                      15:70908575 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:70616235:G:A
                      Gene:
                      SALRNA3 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000023/6 (TOPMED)
                      A=0.000029/4 (GnomAD)
                      A=0.000684/2 (KOREAN)
                      HGVS:
                      11.

                      rs1485577326 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        15:70616133 (GRCh38)
                        15:70908472 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:70616132:A:C
                        Gene:
                        SALRNA3 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1483269991 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          15:70615810 (GRCh38)
                          15:70908149 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:70615809:G:T
                          Gene:
                          SALRNA3 (Varview)
                          Functional Consequence:
                          non_coding_transcript_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.

                          rs1483045192 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            15:70616333 (GRCh38)
                            15:70908672 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:70616332:GGG:GG
                            Gene:
                            SALRNA3 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GG=0.000071/1 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000019/5 (TOPMED)
                            HGVS:
                            14.

                            rs1481430104 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:70615267 (GRCh38)
                              15:70907606 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:70615266:G:A
                              Gene:
                              SALRNA3 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1480371519 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                15:70613592 (GRCh38)
                                15:70905931 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:70613591:G:A
                                Gene:
                                SALRNA3 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1480069147 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  15:70615541 (GRCh38)
                                  15:70907880 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:70615540:A:C
                                  Gene:
                                  SALRNA3 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1479611189 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    15:70615930 (GRCh38)
                                    15:70908269 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:70615929:G:A
                                    Gene:
                                    SALRNA3 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000094/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1479064663 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      15:70613735 (GRCh38)
                                      15:70906074 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:70613734:A:T
                                      Gene:
                                      SALRNA3 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1478865487 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:70616595 (GRCh38)
                                        15:70908934 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:70616594:G:A
                                        Gene:
                                        SALRNA3 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477018945 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CAGATAGATAGA>- [Show Flanks]
                                          Chromosome:
                                          15:70614551 (GRCh38)
                                          15:70906890 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:70614543:AGATAGACAGATAGATAGA:AGATAGA
                                          Gene:
                                          SALRNA3 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AGATAGA=0./0 (ALFA)
                                          -=0.000053/7 (GnomAD)
                                          HGVS:

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