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Links from Nucleotide

Items: 1 to 20 of 529

1.

rs1486289282 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:92421765 (GRCh38)
    12:92815541 (GRCh37)
    Canonical SPDI:
    NC_000012.12:92421764:A:G
    Gene:
    CLLU1-AS1 (Varview), CLLU1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000019/5 (TOPMED)
    HGVS:
    2.

    rs1485875983 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      12:92429049 (GRCh38)
      12:92822825 (GRCh37)
      Canonical SPDI:
      NC_000012.12:92429048:C:A,NC_000012.12:92429048:C:T
      Gene:
      CLLU1-AS1 (Varview), CLLU1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1485211041 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:92430015 (GRCh38)
        12:92823791 (GRCh37)
        Canonical SPDI:
        NC_000012.12:92430014:A:G
        Gene:
        CLLU1-AS1 (Varview), CLLU1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1483163899 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:92421649 (GRCh38)
          12:92815425 (GRCh37)
          Canonical SPDI:
          NC_000012.12:92421648:C:T
          Gene:
          CLLU1-AS1 (Varview), CLLU1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_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.

          rs1477139247 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:92430014 (GRCh38)
            12:92823790 (GRCh37)
            Canonical SPDI:
            NC_000012.12:92430013:C:T
            Gene:
            CLLU1-AS1 (Varview), CLLU1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1475006847 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:92430554 (GRCh38)
              12:92824330 (GRCh37)
              Canonical SPDI:
              NC_000012.12:92430553:C:T
              Gene:
              CLLU1-AS1 (Varview), CLLU1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_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:
              7.

              rs1474449557 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                12:92430986 (GRCh38)
                12:92824762 (GRCh37)
                Canonical SPDI:
                NC_000012.12:92430985:C:G,NC_000012.12:92430985:C:T
                Gene:
                CLLU1-AS1 (Varview), CLLU1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1473112987 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:92430882 (GRCh38)
                  12:92824658 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:92430881:G:A
                  Gene:
                  CLLU1-AS1 (Varview), CLLU1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000019/5 (TOPMED)
                  HGVS:
                  9.

                  rs1472301877 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:92429888 (GRCh38)
                    12:92823664 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:92429887:A:G
                    Gene:
                    CLLU1-AS1 (Varview), CLLU1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_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:
                    10.

                    rs1470987202 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      12:92430361 (GRCh38)
                      12:92824137 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:92430360:G:T
                      Gene:
                      CLLU1-AS1 (Varview), CLLU1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1469544039 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:92430570 (GRCh38)
                        12:92824346 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:92430569:A:G
                        Gene:
                        CLLU1-AS1 (Varview), CLLU1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,non_coding_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.

                        rs1469399645 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          12:92429610 (GRCh38)
                          12:92823386 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:92429609:A:C
                          Gene:
                          CLLU1-AS1 (Varview), CLLU1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1469121242 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            12:92430224 (GRCh38)
                            12:92824000 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:92430223:A:T
                            Gene:
                            CLLU1-AS1 (Varview), CLLU1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_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:
                            14.

                            rs1468172277 has merged into rs1202010466 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTATTA>-,TTA [Show Flanks]
                              Chromosome:
                              12:92430027 (GRCh38)
                              12:92823803 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:92430023:TTATTATTA:TTA,NC_000012.12:92430023:TTATTATTA:TTATTA
                              Gene:
                              CLLU1-AS1 (Varview), CLLU1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTA=0./0 (ALFA)
                              -=0.000021/3 (GnomAD)
                              -=0.000035/1 (TOMMO)
                              HGVS:
                              15.

                              rs1465910609 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                12:92430753 (GRCh38)
                                12:92824529 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:92430752:G:
                                Gene:
                                CLLU1-AS1 (Varview), CLLU1 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1465758097 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  12:92421566 (GRCh38)
                                  12:92815342 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:92421565:T:G
                                  Gene:
                                  CLLU1-AS1 (Varview), CLLU1 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1465339669 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    12:92429585 (GRCh38)
                                    12:92823361 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:92429584:T:C,NC_000012.12:92429584:T:G
                                    Gene:
                                    CLLU1-AS1 (Varview), CLLU1 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1464327392 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:92429838 (GRCh38)
                                      12:92823614 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:92429837:T:C
                                      Gene:
                                      CLLU1-AS1 (Varview), CLLU1 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1460019396 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:92429537 (GRCh38)
                                        12:92823313 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:92429536:C:T
                                        Gene:
                                        CLLU1-AS1 (Varview), CLLU1 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_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.

                                        rs1457483006 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:92429540 (GRCh38)
                                          12:92823316 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:92429539:T:C
                                          Gene:
                                          CLLU1-AS1 (Varview), CLLU1 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_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:

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