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Items: 1 to 20 of 618

1.

rs1490364696 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    12:48655174 (GRCh38)
    12:49048957 (GRCh37)
    Canonical SPDI:
    NC_000012.12:48655173:C:A
    Gene:
    KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490095267 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C,T [Show Flanks]
      Chromosome:
      12:48656272 (GRCh38)
      12:49050055 (GRCh37)
      Canonical SPDI:
      NC_000012.12:48656271:G:C,NC_000012.12:48656271:G:T
      Gene:
      KANSL2 (Varview), SNORA2A (Varview), SNORA2C (Varview), MIR1291 (Varview)
      Functional Consequence:
      intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      T=0.00924/27 (KOREAN)
      G=0.5/3 (SGDP_PRJ)
      ...more
      HGVS:
      3.

      rs1488080721 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        12:48655222 (GRCh38)
        12:49049005 (GRCh37)
        Canonical SPDI:
        NC_000012.12:48655221:G:C
        Gene:
        KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000021/3 (GnomAD)
        C=0.000023/6 (TOPMED)
        ...more
        HGVS:
        4.

        rs1487862316 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          12:48655207 (GRCh38)
          12:49048990 (GRCh37)
          Canonical SPDI:
          NC_000012.12:48655206:C:A
          Gene:
          KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1484756254 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:48655483 (GRCh38)
            12:49049266 (GRCh37)
            Canonical SPDI:
            NC_000012.12:48655482:C:A
            Gene:
            KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1484575115 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              12:48656124 (GRCh38)
              12:49049907 (GRCh37)
              Canonical SPDI:
              NC_000012.12:48656123:C:A,NC_000012.12:48656123:C:T
              Gene:
              KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              T=0.000546/1 (Korea1K)
              ...more
              HGVS:
              7.

              rs1482230338 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                12:48654737 (GRCh38)
                12:49048520 (GRCh37)
                Canonical SPDI:
                NC_000012.12:48654736:C:G
                Gene:
                KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1480510876 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  12:48654890 (GRCh38)
                  12:49048673 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:48654889:C:A
                  Gene:
                  KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000021/3 (GnomAD)
                  ...more
                  HGVS:
                  9.

                  rs1479866460 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    12:48655863 (GRCh38)
                    12:49049646 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:48655862:C:A
                    Gene:
                    KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1479192709 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      12:48655301 (GRCh38)
                      12:49049084 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:48655300:C:A
                      Gene:
                      KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1475983717 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:48656314 (GRCh38)
                        12:49050097 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:48656313:C:T
                        Gene:
                        KANSL2 (Varview), SNORA2A (Varview), SNORA2C (Varview), MIR1291 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.000019/5 (TOPMED)
                        ...more
                        HGVS:
                        12.

                        rs1475966447 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          12:48654970 (GRCh38)
                          12:49048753 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:48654969:C:A,NC_000012.12:48654969:C:G
                          Gene:
                          KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,missense_variant,stop_gained,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1475883698 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:48654232 (GRCh38)
                            12:49048015 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:48654231:A:G
                            Gene:
                            KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                            Functional Consequence:
                            intron_variant,downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1473984424 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              12:48654544 (GRCh38)
                              12:49048327 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:48654543:C:G,NC_000012.12:48654543:C:T
                              Gene:
                              KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1473607865 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CGAGACTGCACCTCTGC>- [Show Flanks]
                                Chromosome:
                                12:48655517 (GRCh38)
                                12:49049300 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:48655514:GCCGAGACTGCACCTCTGC:GC
                                Gene:
                                KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GC=0./0 (ALFA)
                                -=0.000014/2 (GnomAD)
                                -=0.000019/5 (TOPMED)
                                ...more
                                HGVS:
                                16.

                                rs1473601035 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GAGG>- [Show Flanks]
                                  Chromosome:
                                  12:48655834 (GRCh38)
                                  12:49049617 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:48655831:GGGAGG:GG
                                  Gene:
                                  KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GG=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1472618928 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CTGCAAAAA>- [Show Flanks]
                                    Chromosome:
                                    12:48655411 (GRCh38)
                                    12:49049194 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:48655404:CAAAAACTGCAAAAA:CAAAAA
                                    Gene:
                                    KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CAAAAA=0./0 (ALFA)
                                    -=0.000064/17 (TOPMED)
                                    -=0.000071/10 (GnomAD)
                                    ...more
                                    HGVS:
                                    18.

                                    rs1472605274 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      TA>- [Show Flanks]
                                      Chromosome:
                                      12:48655730 (GRCh38)
                                      12:49049513 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:48655729:TA:
                                      Gene:
                                      KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000008/2 (TOPMED)
                                      -=0.000546/1 (Korea1K)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1471634988 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:48654872 (GRCh38)
                                        12:49048655 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:48654871:C:T
                                        Gene:
                                        KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000014/2 (GnomAD)
                                        T=0.000023/6 (TOPMED)
                                        ...more
                                        HGVS:
                                        20.

                                        rs1471186330 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          12:48655858 (GRCh38)
                                          12:49049641 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:48655857:C:G
                                          Gene:
                                          KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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