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Items: 1 to 20 of 1138

1.

rs1490870359 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    1:46446517 (GRCh38)
    1:46912189 (GRCh37)
    Canonical SPDI:
    NC_000001.11:46446516:A:T
    Gene:
    LINC01398 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000036/5 (GnomAD)
    T=0.000057/15 (TOPMED)
    HGVS:
    2.

    rs1490038893 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      1:46450261 (GRCh38)
      1:46915933 (GRCh37)
      Canonical SPDI:
      NC_000001.11:46450260:T:A
      Gene:
      LINC01398 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.0002/1 (ALFA)
      A=0.0002/1 (Estonian)
      HGVS:
      3.

      rs1487488188 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        1:46446881 (GRCh38)
        1:46912553 (GRCh37)
        Canonical SPDI:
        NC_000001.11:46446880:C:A
        Gene:
        LINC01398 (Varview)
        Functional Consequence:
        non_coding_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:
        4.

        rs1487269437 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          1:46450897 (GRCh38)
          1:46916569 (GRCh37)
          Canonical SPDI:
          NC_000001.11:46450896:C:A
          Gene:
          LINC01398 (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=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1486935515 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:46451583 (GRCh38)
            1:46917255 (GRCh37)
            Canonical SPDI:
            NC_000001.11:46451582:G:A
            Gene:
            LINC01398 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1486350810 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              1:46449413 (GRCh38)
              1:46915085 (GRCh37)
              Canonical SPDI:
              NC_000001.11:46449412:G:C
              Gene:
              LINC01398 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000008/2 (TOPMED)
              C=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1486306104 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:46448977 (GRCh38)
                1:46914649 (GRCh37)
                Canonical SPDI:
                NC_000001.11:46448976:T:C
                Gene:
                LINC01398 (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:
                8.

                rs1486220069 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:46446765 (GRCh38)
                  1:46912437 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:46446764:C:G
                  Gene:
                  LINC01398 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000214/3 (ALFA)
                  G=0.000008/2 (TOPMED)
                  G=0.000043/6 (GnomAD)
                  HGVS:
                  9.

                  rs1485340481 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:46449793 (GRCh38)
                    1:46915465 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:46449792:A:G
                    Gene:
                    LINC01398 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1485010569 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      1:46449246 (GRCh38)
                      1:46914918 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:46449245:G:C
                      Gene:
                      LINC01398 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1484858191 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        1:46448242 (GRCh38)
                        1:46913914 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:46448241:C:G
                        Gene:
                        LINC01398 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        G=0.000389/7 (TOMMO)
                        HGVS:
                        12.

                        rs1484728531 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          1:46448551 (GRCh38)
                          1:46914223 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:46448550:G:C,NC_000001.11:46448550:G:T
                          Gene:
                          LINC01398 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1483220454 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:46447848 (GRCh38)
                            1:46913520 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:46447847:G:C
                            Gene:
                            LINC01398 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000019/5 (TOPMED)
                            HGVS:
                            14.

                            rs1483056086 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:46448319 (GRCh38)
                              1:46913991 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:46448318:C:T
                              Gene:
                              LINC01398 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              T=0.000318/5 (TOMMO)
                              HGVS:
                              15.

                              rs1482952263 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:46447375 (GRCh38)
                                1:46913047 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:46447374:T:C
                                Gene:
                                LINC01398 (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:
                                16.

                                rs1482900837 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  1:46447278 (GRCh38)
                                  1:46912950 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:46447277:GG:G
                                  Gene:
                                  LINC01398 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GG=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1482870999 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:46451005 (GRCh38)
                                    1:46916677 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:46451004:G:A
                                    Gene:
                                    LINC01398 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_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:
                                    18.

                                    rs1482748848 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      1:46447844 (GRCh38)
                                      1:46913517 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:46447844:T:TT
                                      Gene:
                                      LINC01398 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TT=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1482636878 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        1:46446706 (GRCh38)
                                        1:46912378 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:46446705:C:A
                                        Gene:
                                        LINC01398 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1480953259 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TACATATGG>- [Show Flanks]
                                          Chromosome:
                                          1:46447551 (GRCh38)
                                          1:46913223 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:46447548:GGTACATATGG:GG
                                          Gene:
                                          LINC01398 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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