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Links from Nucleotide

Items: 1 to 20 of 223

1.

rs1490189727 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    21:32393770 (GRCh38)
    21:33766079 (GRCh37)
    Canonical SPDI:
    NC_000021.9:32393769:C:G
    Gene:
    URB1 (Varview), URB1-AS1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1485091516 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      21:32393939 (GRCh38)
      21:33766248 (GRCh37)
      Canonical SPDI:
      NC_000021.9:32393938:T:C
      Gene:
      URB1 (Varview), URB1-AS1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000008/2 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1480532882 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        21:32393465 (GRCh38)
        21:33765774 (GRCh37)
        Canonical SPDI:
        NC_000021.9:32393464:A:C
        Gene:
        URB1 (Varview), URB1-AS1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1479673283 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          21:32393284 (GRCh38)
          21:33765593 (GRCh37)
          Canonical SPDI:
          NC_000021.9:32393283:G:A,NC_000021.9:32393283:G:T
          Gene:
          URB1 (Varview), URB1-AS1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,non_coding_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:
          5.

          rs1475169048 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            21:32393749 (GRCh38)
            21:33766058 (GRCh37)
            Canonical SPDI:
            NC_000021.9:32393748:T:A
            Gene:
            URB1 (Varview), URB1-AS1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,non_coding_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:
            6.

            rs1470178965 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              21:32393724 (GRCh38)
              21:33766033 (GRCh37)
              Canonical SPDI:
              NC_000021.9:32393723:C:T
              Gene:
              URB1 (Varview), URB1-AS1 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000023/6 (TOPMED)
              T=0.000036/5 (GnomAD)
              HGVS:
              7.

              rs1470163076 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                21:32393570 (GRCh38)
                21:33765879 (GRCh37)
                Canonical SPDI:
                NC_000021.9:32393569:G:A
                Gene:
                URB1 (Varview), URB1-AS1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1469698302 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  21:32393671 (GRCh38)
                  21:33765980 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:32393670:A:G,NC_000021.9:32393670:A:T
                  Gene:
                  URB1 (Varview), URB1-AS1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1467803572 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    21:32393399 (GRCh38)
                    21:33765708 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:32393398:A:C
                    Gene:
                    URB1 (Varview), URB1-AS1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000009/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1464451200 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      21:32393775 (GRCh38)
                      21:33766084 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:32393774:C:T
                      Gene:
                      URB1 (Varview), URB1-AS1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000011/3 (TOPMED)
                      T=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1461044204 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        21:32393589 (GRCh38)
                        21:33765898 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:32393588:T:C
                        Gene:
                        URB1 (Varview), URB1-AS1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.00003/8 (TOPMED)
                        HGVS:
                        12.

                        rs1459152801 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          21:32393368 (GRCh38)
                          21:33765677 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:32393367:C:G
                          Gene:
                          URB1 (Varview), URB1-AS1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000015/2 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1453086180 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            21:32393683 (GRCh38)
                            21:33765992 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:32393682:C:T
                            Gene:
                            URB1 (Varview), URB1-AS1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1450288043 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              21:32393337 (GRCh38)
                              21:33765646 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:32393336:C:A
                              Gene:
                              URB1 (Varview), URB1-AS1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.00013/3 (ALFA)
                              A=0.000034/9 (TOPMED)
                              A=0.000043/6 (GnomAD)
                              HGVS:
                              15.

                              rs1449920270 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                21:32393411 (GRCh38)
                                21:33765720 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:32393410:A:G
                                Gene:
                                URB1 (Varview), URB1-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.00001/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1447866596 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  21:32393156 (GRCh38)
                                  21:33765465 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:32393155:G:C
                                  Gene:
                                  URB1 (Varview), URB1-AS1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1445008605 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    21:32393210 (GRCh38)
                                    21:33765519 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:32393209:T:A
                                    Gene:
                                    URB1 (Varview), URB1-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,non_coding_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:
                                    18.

                                    rs1443879977 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      21:32393169 (GRCh38)
                                      21:33765478 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:32393168:C:G,NC_000021.9:32393168:C:T
                                      Gene:
                                      URB1 (Varview), URB1-AS1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1443537619 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        21:32393446 (GRCh38)
                                        21:33765755 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:32393445:T:G
                                        Gene:
                                        URB1 (Varview), URB1-AS1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000023/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1442154362 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          21:32393296 (GRCh38)
                                          21:33765605 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:32393295:T:G
                                          Gene:
                                          URB1 (Varview), URB1-AS1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000014/2 (GnomAD_exomes)
                                          HGVS:

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