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Items: 1 to 20 of 1000

1.

rs1490676161 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GACGTCCCCCTCAC>-,GACGTCCCCCTCACGACGTCCCCCTCAC [Show Flanks]
    Chromosome:
    13:110813621 (GRCh38)
    13:111465968 (GRCh37)
    Canonical SPDI:
    NC_000013.11:110813601:CTCACGACGTCCCCCTCACGACGTCCCCCTCAC:CTCACGACGTCCCCCTCAC,NC_000013.11:110813601:CTCACGACGTCCCCCTCACGACGTCCCCCTCAC:CTCACGACGTCCCCCTCACGACGTCCCCCTCACGACGTCCCCCTCAC
    Gene:
    LINC00567 (Varview), LOC105370362 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTCACGACGTCCCCCTCACGACGTCCCCCTCACGACGTCCCCCTCAC=0.00006/1 (ALFA)
    -=0.00759/126 (TOMMO)
    -=0.00986/18 (Korea1K)
    HGVS:
    2.

    rs1490380681 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      13:110813083 (GRCh38)
      13:111465430 (GRCh37)
      Canonical SPDI:
      NC_000013.11:110813082:T:C
      Gene:
      LINC00567 (Varview), LOC105370362 (Varview)
      Functional Consequence:
      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.00641/76 (ALFA)
      C=0.00962/28 (KOREAN)
      HGVS:
      3.

      rs1489833764 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        13:110813294 (GRCh38)
        13:111465641 (GRCh37)
        Canonical SPDI:
        NC_000013.11:110813293:T:A
        Gene:
        LINC00567 (Varview), LOC105370362 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1487123956 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTCACCACGCTCCCCCCTCACGACGTCCCC>- [Show Flanks]
          Chromosome:
          13:110813558 (GRCh38)
          13:111465905 (GRCh37)
          Canonical SPDI:
          NC_000013.11:110813538:CCCCCCTCACGACGTCCCCGTCACCACGCTCCCCCCTCACGACGTCCCC:CCCCCCTCACGACGTCCCC
          Gene:
          LINC00567 (Varview), LOC105370362 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          CCCCCCTCACGACGTCCCC=0./0 (ALFA)
          HGVS:
          5.

          rs1486476786 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            13:110810544 (GRCh38)
            13:111462891 (GRCh37)
            Canonical SPDI:
            NC_000013.11:110810543:G:A
            Gene:
            LINC00567 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486349254 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              13:110813276 (GRCh38)
              13:111465623 (GRCh37)
              Canonical SPDI:
              NC_000013.11:110813275:C:T
              Gene:
              LINC00567 (Varview), LOC105370362 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1486158011 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                13:110813036 (GRCh38)
                13:111465383 (GRCh37)
                Canonical SPDI:
                NC_000013.11:110813035:C:T
                Gene:
                LINC00567 (Varview), LOC105370362 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1486011419 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  13:110809880 (GRCh38)
                  13:111462227 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:110809879:T:C
                  Gene:
                  LINC00567 (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:
                  9.

                  rs1485936265 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:110809409 (GRCh38)
                    13:111461756 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:110809408:C:T
                    Gene:
                    LINC00567 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000546/1 (Korea1K)
                    HGVS:
                    10.

                    rs1485883278 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      13:110810831 (GRCh38)
                      13:111463178 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:110810830:T:G
                      Gene:
                      LINC00567 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1485153298 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:110814137 (GRCh38)
                        13:111466484 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:110814136:A:G
                        Gene:
                        LINC00567 (Varview), LOC105370362 (Varview)
                        Functional Consequence:
                        intron_variant,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:
                        12.

                        rs1484525246 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:110811507 (GRCh38)
                          13:111463854 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:110811506:A:G
                          Gene:
                          LINC00567 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1484091471 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:110811944 (GRCh38)
                            13:111464291 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:110811943:G:A
                            Gene:
                            LINC00567 (Varview), LOC105370362 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,non_coding_transcript_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:
                            14.

                            rs1484042366 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              13:110810764 (GRCh38)
                              13:111463111 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:110810763:T:A
                              Gene:
                              LINC00567 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1483967570 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                13:110810463 (GRCh38)
                                13:111462810 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:110810462:T:C
                                Gene:
                                LINC00567 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1483939626 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  13:110814445 (GRCh38)
                                  13:111466792 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:110814444:G:T
                                  Gene:
                                  LINC00567 (Varview), LOC105370362 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483185208 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    13:110815073 (GRCh38)
                                    13:111467420 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:110815072:T:G
                                    Gene:
                                    LINC00567 (Varview), LOC105370362 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483050593 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:110813091 (GRCh38)
                                      13:111465438 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:110813090:C:T
                                      Gene:
                                      LINC00567 (Varview), LOC105370362 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482823545 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        13:110812807 (GRCh38)
                                        13:111465154 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:110812806:A:T
                                        Gene:
                                        LINC00567 (Varview), LOC105370362 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,non_coding_transcript_variant,upstream_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:
                                        20.

                                        rs1482052755 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          13:110814257 (GRCh38)
                                          13:111466604 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:110814256:G:C
                                          Gene:
                                          LINC00567 (Varview), LOC105370362 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000015/4 (TOPMED)
                                          C=0.000021/3 (GnomAD)
                                          HGVS:

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