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Links from Nucleotide

Items: 1 to 20 of 660

1.

rs1489063765 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    5:88666092 (GRCh38)
    5:87961910 (GRCh37)
    Canonical SPDI:
    NC_000005.10:88666091:C:A
    Gene:
    LINC00461 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1488991613 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      5:88667303 (GRCh38)
      5:87963121 (GRCh37)
      Canonical SPDI:
      NC_000005.10:88667302:C:A
      Gene:
      MIR9-2 (Varview), LINC00461 (Varview)
      Functional Consequence:
      intron_variant,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:
      3.

      rs1488061637 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        5:88667544 (GRCh38)
        5:87963362 (GRCh37)
        Canonical SPDI:
        NC_000005.10:88667543:G:C,NC_000005.10:88667543:G:T
        Gene:
        MIR9-2 (Varview), LINC00461 (Varview)
        Functional Consequence:
        intron_variant,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)
        HGVS:
        4.

        rs1487181708 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          5:88664485 (GRCh38)
          5:87960303 (GRCh37)
          Canonical SPDI:
          NC_000005.10:88664484:A:G
          Gene:
          LINC00461 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000142/2 (ALFA)
          G=0.000023/6 (TOPMED)
          G=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs1485804262 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            5:88665726 (GRCh38)
            5:87961544 (GRCh37)
            Canonical SPDI:
            NC_000005.10:88665725:G:A
            Gene:
            LINC00461 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000042/11 (TOPMED)
            A=0.000086/12 (GnomAD)
            HGVS:
            6.
            7.
            8.

            rs1480257465 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              5:88665666 (GRCh38)
              5:87961484 (GRCh37)
              Canonical SPDI:
              NC_000005.10:88665665:T:A
              Gene:
              LINC00461 (Varview)
              Functional Consequence:
              intron_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:
              9.

              rs1479432246 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                5:88665949 (GRCh38)
                5:87961767 (GRCh37)
                Canonical SPDI:
                NC_000005.10:88665948:C:A
                Gene:
                LINC00461 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000029/4 (GnomAD)
                A=0.000053/14 (TOPMED)
                HGVS:
                10.

                rs1478946241 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  5:88666780 (GRCh38)
                  5:87962598 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:88666779:G:A
                  Gene:
                  MIR9-2 (Varview), LINC00461 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  11.

                  rs1478500276 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    5:88665837 (GRCh38)
                    5:87961655 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:88665836:C:G
                    Gene:
                    LINC00461 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000023/6 (TOPMED)
                    G=0.000036/5 (GnomAD)
                    HGVS:
                    12.

                    rs1477741325 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      5:88666666 (GRCh38)
                      5:87962484 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:88666665:C:G,NC_000005.10:88666665:C:T
                      Gene:
                      MIR9-2 (Varview), LINC00461 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000042/11 (TOPMED)
                      G=0.000043/6 (GnomAD)
                      HGVS:
                      13.

                      rs1477521822 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:88667245 (GRCh38)
                        5:87963063 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:88667244:G:A
                        Gene:
                        MIR9-2 (Varview), LINC00461 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_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:
                        14.

                        rs1476746814 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:88666842 (GRCh38)
                          5:87962660 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:88666841:C:T
                          Gene:
                          MIR9-2 (Varview), LINC00461 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          15.

                          rs1475310481 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            5:88665465 (GRCh38)
                            5:87961283 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:88665464:G:C
                            Gene:
                            LINC00461 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            16.

                            rs1474475778 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              5:88665678 (GRCh38)
                              5:87961497 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:88665678:AAAAAA:AAAAAAA
                              Gene:
                              LINC00461 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAA=0.000071/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              17.

                              rs1473987626 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                5:88666532 (GRCh38)
                                5:87962350 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:88666531:CC:C
                                Gene:
                                MIR9-2 (Varview), LINC00461 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                -=0.000015/4 (TOPMED)
                                HGVS:
                                18.

                                rs1471911056 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  5:88666776 (GRCh38)
                                  5:87962594 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:88666775:A:G
                                  Gene:
                                  MIR9-2 (Varview), LINC00461 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  19.

                                  rs1471383905 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    5:88667238 (GRCh38)
                                    5:87963056 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:88667237:C:G
                                    Gene:
                                    MIR9-2 (Varview), LINC00461 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000035/1 (TOMMO)
                                    HGVS:
                                    20.

                                    rs1470722866 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:88665530 (GRCh38)
                                      5:87961348 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:88665529:C:T
                                      Gene:
                                      LINC00461 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000035/1 (TOMMO)
                                      HGVS:

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