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Items: 1 to 20 of 861

1.

rs1489489554 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    21:41716991 (GRCh38)
    21:43137151 (GRCh37)
    Canonical SPDI:
    NC_000021.9:41716990:C:T
    Gene:
    LINC00112 (Varview), LINC00479 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1488683847 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      21:41716631 (GRCh38)
      21:43136791 (GRCh37)
      Canonical SPDI:
      NC_000021.9:41716630:G:A
      Gene:
      LINC00112 (Varview), LINC00479 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1487867527 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        21:41716529 (GRCh38)
        21:43136689 (GRCh37)
        Canonical SPDI:
        NC_000021.9:41716528:G:A
        Gene:
        LINC00112 (Varview), LINC00479 (Varview)
        Functional Consequence:
        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1487436368 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          21:41715216 (GRCh38)
          21:43135376 (GRCh37)
          Canonical SPDI:
          NC_000021.9:41715215:G:A
          Gene:
          LINC00112 (Varview), LINC00479 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1486615233 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            21:41716008 (GRCh38)
            21:43136168 (GRCh37)
            Canonical SPDI:
            NC_000021.9:41716007:C:T
            Gene:
            LINC00112 (Varview), LINC00479 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000356/5 (ALFA)
            T=0.000079/11 (GnomAD)
            T=0.000094/25 (TOPMED)
            HGVS:
            6.

            rs1486216667 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              21:41717862 (GRCh38)
              21:43138022 (GRCh37)
              Canonical SPDI:
              NC_000021.9:41717861:A:C
              Gene:
              LINC00112 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.00003/8 (TOPMED)
              C=0.000043/6 (GnomAD)
              HGVS:
              7.

              rs1485419403 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                21:41717521 (GRCh38)
                21:43137681 (GRCh37)
                Canonical SPDI:
                NC_000021.9:41717520:T:C
                Gene:
                LINC00112 (Varview), LINC00479 (Varview)
                Functional Consequence:
                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_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.

                rs1485105289 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  21:41717157 (GRCh38)
                  21:43137317 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:41717156:A:G
                  Gene:
                  LINC00112 (Varview), LINC00479 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                  HGVS:
                  9.

                  rs1484625257 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    21:41717488 (GRCh38)
                    21:43137648 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:41717487:C:T
                    Gene:
                    LINC00112 (Varview), LINC00479 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1483663224 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      21:41716913 (GRCh38)
                      21:43137073 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:41716912:G:A
                      Gene:
                      LINC00112 (Varview), LINC00479 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1482010020 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        21:41715554 (GRCh38)
                        21:43135714 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:41715553:G:A,NC_000021.9:41715553:G:C
                        Gene:
                        LINC00112 (Varview), LINC00479 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        C=0.000342/1 (KOREAN)
                        HGVS:
                        12.

                        rs1481980381 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          21:41716513 (GRCh38)
                          21:43136673 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:41716512:C:T
                          Gene:
                          LINC00112 (Varview), LINC00479 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1480539292 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            21:41715709 (GRCh38)
                            21:43135869 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:41715708:T:C
                            Gene:
                            LINC00112 (Varview), LINC00479 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1480190459 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              21:41714646 (GRCh38)
                              21:43134806 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:41714645:G:C
                              Gene:
                              LINC00112 (Varview), LINC00479 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1479100444 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                21:41717224 (GRCh38)
                                21:43137384 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:41717223:A:G
                                Gene:
                                LINC00112 (Varview), LINC00479 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                HGVS:
                                16.

                                rs1478953672 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  21:41714552 (GRCh38)
                                  21:43134712 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:41714551:C:
                                  Gene:
                                  LINC00112 (Varview), LINC00479 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1478885438 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    21:41717063 (GRCh38)
                                    21:43137223 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:41717062:C:T
                                    Gene:
                                    LINC00112 (Varview), LINC00479 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1477927917 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      21:41716281 (GRCh38)
                                      21:43136441 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:41716280:C:A
                                      Gene:
                                      LINC00112 (Varview), LINC00479 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1476920883 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        21:41715302 (GRCh38)
                                        21:43135462 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:41715301:G:A
                                        Gene:
                                        LINC00112 (Varview), LINC00479 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1476145688 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          21:41714681 (GRCh38)
                                          21:43134841 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:41714680:C:T
                                          Gene:
                                          LINC00112 (Varview), LINC00479 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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