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Items: 1 to 20 of 1766

1.

rs1490396135 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    1:38212187 (GRCh38)
    1:38677859 (GRCh37)
    Canonical SPDI:
    NC_000001.11:38212186:T:A,NC_000001.11:38212186:T:C
    Gene:
    LINC01343 (Varview), LOC105378654 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_downstream_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:
    2.

    rs1490364543 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      1:38213289 (GRCh38)
      1:38678961 (GRCh37)
      Canonical SPDI:
      NC_000001.11:38213288:C:A
      Gene:
      LINC01343 (Varview), LOC105378654 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1490005501 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        1:38215586 (GRCh38)
        1:38681258 (GRCh37)
        Canonical SPDI:
        NC_000001.11:38215585:A:T
        Gene:
        LINC01343 (Varview), LOC105378654 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489746491 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:38213637 (GRCh38)
          1:38679309 (GRCh37)
          Canonical SPDI:
          NC_000001.11:38213636:A:G
          Gene:
          LINC01343 (Varview), LOC105378654 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1489288812 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            1:38214295 (GRCh38)
            1:38679967 (GRCh37)
            Canonical SPDI:
            NC_000001.11:38214294:G:A,NC_000001.11:38214294:G:C
            Gene:
            LINC01343 (Varview), LOC105378654 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488751465 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:38209490 (GRCh38)
              1:38675162 (GRCh37)
              Canonical SPDI:
              NC_000001.11:38209489:G:T
              Gene:
              LINC01343 (Varview), LOC105378654 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488656091 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:38216712 (GRCh38)
                1:38682384 (GRCh37)
                Canonical SPDI:
                NC_000001.11:38216711:G:A
                Gene:
                LINC01343 (Varview), LOC105378654 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000021/3 (GnomAD)
                A=0.008333/5 (NorthernSweden)
                HGVS:
                8.

                rs1487328219 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  1:38216443 (GRCh38)
                  1:38682115 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:38216442:C:A,NC_000001.11:38216442:C:T
                  Gene:
                  LINC01343 (Varview), LOC105378654 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1486970428 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    1:38209055 (GRCh38)
                    1:38674727 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:38209054:T:G
                    Gene:
                    LINC01343 (Varview), LOC105378654 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1486212370 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:38212093 (GRCh38)
                      1:38677765 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:38212092:C:T
                      Gene:
                      LINC01343 (Varview), LOC105378654 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000008/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1486003164 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        1:38215468 (GRCh38)
                        1:38681140 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:38215467:A:C,NC_000001.11:38215467:A:G
                        Gene:
                        LINC01343 (Varview), LOC105378654 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1485701378 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:38212493 (GRCh38)
                          1:38678165 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:38212492:T:C
                          Gene:
                          LINC01343 (Varview), LOC105378654 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                          HGVS:
                          13.

                          rs1485642601 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:38211807 (GRCh38)
                            1:38677479 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:38211806:G:A
                            Gene:
                            LINC01343 (Varview), LOC105378654 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000008/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1485024762 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:38214036 (GRCh38)
                              1:38679708 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:38214035:G:A
                              Gene:
                              LINC01343 (Varview), LOC105378654 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1484824270 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                1:38212307 (GRCh38)
                                1:38677979 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:38212306:C:A
                                Gene:
                                LINC01343 (Varview), LOC105378654 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.00008/1 (ALFA)
                                C=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1484368993 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:38215053 (GRCh38)
                                  1:38680725 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:38215052:C:T
                                  Gene:
                                  LINC01343 (Varview), LOC105378654 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484358335 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:38212208 (GRCh38)
                                    1:38677880 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:38212207:T:C
                                    Gene:
                                    LINC01343 (Varview), LOC105378654 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000008/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1484340543 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:38215578 (GRCh38)
                                      1:38681250 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:38215577:C:T
                                      Gene:
                                      LINC01343 (Varview), LOC105378654 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484306337 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:38210665 (GRCh38)
                                        1:38676337 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:38210664:A:G
                                        Gene:
                                        LINC01343 (Varview), LOC105378654 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1484070088 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:38214563 (GRCh38)
                                          1:38680235 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:38214562:C:T
                                          Gene:
                                          LINC01343 (Varview), LOC105378654 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          T=0.000015/4 (TOPMED)
                                          HGVS:

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