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Items: 1 to 20 of 747

1.

rs1490807960 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    22:19171710 (GRCh38)
    22:19159223 (GRCh37)
    Canonical SPDI:
    NC_000022.11:19171709:C:A,NC_000022.11:19171709:C:T
    Gene:
    LINC01311 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000011/3 (TOPMED)
    A=0.000043/6 (GnomAD)
    HGVS:
    2.

    rs1490617689 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:19173143 (GRCh38)
      22:19160656 (GRCh37)
      Canonical SPDI:
      NC_000022.11:19173142:C:T
      Gene:
      LINC01311 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000014/2 (GnomAD)
      T=0.000026/7 (TOPMED)
      HGVS:
      3.

      rs1490318195 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        22:19171417 (GRCh38)
        22:19158930 (GRCh37)
        Canonical SPDI:
        NC_000022.11:19171416:T:C
        Gene:
        LINC01311 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490291547 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          22:19172146 (GRCh38)
          22:19159659 (GRCh37)
          Canonical SPDI:
          NC_000022.11:19172145:C:G
          Gene:
          LINC01311 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488882187 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            22:19171412 (GRCh38)
            22:19158925 (GRCh37)
            Canonical SPDI:
            NC_000022.11:19171411:C:A
            Gene:
            LINC01311 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000021/3 (GnomAD)
            A=0.000026/7 (TOPMED)
            HGVS:
            6.

            rs1488354599 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              22:19173249 (GRCh38)
              22:19160762 (GRCh37)
              Canonical SPDI:
              NC_000022.11:19173248:G:C
              Gene:
              LINC01311 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              C=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1488234542 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                22:19170340 (GRCh38)
                22:19157853 (GRCh37)
                Canonical SPDI:
                NC_000022.11:19170339:T:C
                Gene:
                LINC01311 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1487899441 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  22:19169879 (GRCh38)
                  22:19157392 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:19169878:A:C
                  Gene:
                  LINC01311 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000014/2 (GnomAD)
                  C=0.000049/13 (TOPMED)
                  HGVS:
                  9.

                  rs1485078716 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    22:19172257 (GRCh38)
                    22:19159770 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:19172256:T:A
                    Gene:
                    LINC01311 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1482642703 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      22:19172421 (GRCh38)
                      22:19159934 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:19172420:GG:G
                      Gene:
                      LINC01311 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1480788431 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        22:19172138 (GRCh38)
                        22:19159651 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:19172137:G:A,NC_000022.11:19172137:G:T
                        Gene:
                        LINC01311 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1480370974 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          22:19172228 (GRCh38)
                          22:19159741 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:19172227:G:C
                          Gene:
                          LINC01311 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1480137362 has merged into rs76500193 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AATC>- [Show Flanks]
                            Chromosome:
                            22:19171530 (GRCh38)
                            22:19159043 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:19171524:CAATCAATC:CAATC
                            Gene:
                            LINC01311 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CAATC=0.000071/1 (ALFA)
                            -=0.000057/8 (GnomAD)
                            -=0.000076/20 (TOPMED)
                            HGVS:
                            14.

                            rs1479353619 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:19171643 (GRCh38)
                              22:19159156 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:19171642:C:T
                              Gene:
                              LINC01311 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1478812504 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                22:19169832 (GRCh38)
                                22:19157345 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:19169831:G:A,NC_000022.11:19169831:G:C
                                Gene:
                                LINC01311 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1478770560 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTAG>- [Show Flanks]
                                  Chromosome:
                                  22:19171059 (GRCh38)
                                  22:19158572 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:19171056:AGTTAG:AG
                                  Gene:
                                  LINC01311 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AG=0./0 (ALFA)
                                  -=0.000011/3 (TOPMED)
                                  -=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1477915262 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    22:19169962 (GRCh38)
                                    22:19157475 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:19169961:C:G,NC_000022.11:19169961:C:T
                                    Gene:
                                    LINC01311 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1477849661 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      22:19171077 (GRCh38)
                                      22:19158590 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:19171076:G:A
                                      Gene:
                                      LINC01311 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.00005/7 (GnomAD)
                                      A=0.00006/16 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1477463812 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        22:19169973 (GRCh38)
                                        22:19157486 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:19169972:C:A,NC_000022.11:19169972:C:G,NC_000022.11:19169972:C:T
                                        Gene:
                                        LINC01311 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477249521 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          22:19170095 (GRCh38)
                                          22:19157608 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:19170094:A:G
                                          Gene:
                                          LINC01311 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_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:

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