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Items: 1 to 20 of 1167

1.

rs1490965873 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    9:68547885 (GRCh38)
    9:71162801 (GRCh37)
    Canonical SPDI:
    NC_000009.12:68547884:T:C,NC_000009.12:68547884:T:G
    Gene:
    LINC01506 (Varview), TMEM252-DT (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    HGVS:
    2.

    rs1489791785 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      9:68546192 (GRCh38)
      9:71161108 (GRCh37)
      Canonical SPDI:
      NC_000009.12:68546191:C:A
      Gene:
      LINC01506 (Varview), TMEM252-DT (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      A=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1489740786 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        C>- [Show Flanks]
        Chromosome:
        9:68548552 (GRCh38)
        9:71163468 (GRCh37)
        Canonical SPDI:
        NC_000009.12:68548551:CCCCC:CCCC
        Gene:
        LINC01506 (Varview), TMEM252-DT (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        CCCC=0./0 (ALFA)
        HGVS:
        4.

        rs1489498729 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:68546759 (GRCh38)
          9:71161675 (GRCh37)
          Canonical SPDI:
          NC_000009.12:68546758:G:A
          Gene:
          LINC01506 (Varview), TMEM252-DT (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488225960 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:68544101 (GRCh38)
            9:71159017 (GRCh37)
            Canonical SPDI:
            NC_000009.12:68544100:C:T
            Gene:
            LINC01506 (Varview), TMEM252-DT (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000142/2 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488200294 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:68545198 (GRCh38)
              9:71160114 (GRCh37)
              Canonical SPDI:
              NC_000009.12:68545197:G:A
              Gene:
              LINC01506 (Varview), TMEM252-DT (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1487881774 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                9:68547353 (GRCh38)
                9:71162269 (GRCh37)
                Canonical SPDI:
                NC_000009.12:68547352:GG:G
                Gene:
                LINC01506 (Varview), TMEM252-DT (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GG=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000106/2 (TOMMO)
                HGVS:
                8.

                rs1487670446 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  9:68546305 (GRCh38)
                  9:71161221 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:68546304:C:G
                  Gene:
                  LINC01506 (Varview), TMEM252-DT (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=0.002396/7 (KOREAN)
                  HGVS:
                  9.

                  rs1487576270 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:68546641 (GRCh38)
                    9:71161557 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:68546640:C:T
                    Gene:
                    LINC01506 (Varview), TMEM252-DT (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1487197498 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:68547725 (GRCh38)
                      9:71162641 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:68547724:G:A
                      Gene:
                      LINC01506 (Varview), TMEM252-DT (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1486618769 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        9:68544326 (GRCh38)
                        9:71159242 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:68544325:G:A,NC_000009.12:68544325:G:T
                        Gene:
                        LINC01506 (Varview), TMEM252-DT (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000084/1 (ALFA)
                        T=0.000015/4 (TOPMED)
                        A=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1485433992 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          9:68548519 (GRCh38)
                          9:71163435 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:68548518:T:A
                          Gene:
                          LINC01506 (Varview), TMEM252-DT (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=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1484657043 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:68545284 (GRCh38)
                            9:71160200 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:68545283:C:T
                            Gene:
                            LINC01506 (Varview), TMEM252-DT (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000156/1 (1000Genomes)
                            T=0.000342/1 (KOREAN)
                            T=0.000354/6 (TOMMO)
                            HGVS:
                            14.

                            rs1484171141 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:68545428 (GRCh38)
                              9:71160344 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:68545427:C:T
                              Gene:
                              LINC01506 (Varview), TMEM252-DT (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1481453547 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                9:68547971 (GRCh38)
                                9:71162887 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:68547970:G:A,NC_000009.12:68547970:G:T
                                Gene:
                                LINC01506 (Varview), TMEM252-DT (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1480475650 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  9:68548490 (GRCh38)
                                  9:71163406 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:68548489:G:C
                                  Gene:
                                  LINC01506 (Varview), TMEM252-DT (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_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.

                                  rs1478313203 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    9:68548579 (GRCh38)
                                    9:71163495 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:68548578:TTT:TT
                                    Gene:
                                    LINC01506 (Varview), TMEM252-DT (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1476679146 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      9:68547536 (GRCh38)
                                      9:71162452 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:68547535:G:T
                                      Gene:
                                      LINC01506 (Varview), TMEM252-DT (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1474388036 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:68544184 (GRCh38)
                                        9:71159100 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:68544183:C:T
                                        Gene:
                                        LINC01506 (Varview), TMEM252-DT (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1473978651 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          9:68545390 (GRCh38)
                                          9:71160306 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:68545389:C:G,NC_000009.12:68545389:C:T
                                          Gene:
                                          LINC01506 (Varview), TMEM252-DT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.004762/1 (Vietnamese)
                                          HGVS:

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