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Links from Nucleotide

Items: 1 to 20 of 3019

1.

rs1491332261 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TTGT [Show Flanks]
    Chromosome:
    7:27169094 (GRCh38)
    7:27208714 (GRCh37)
    Canonical SPDI:
    NC_000007.14:27169094:TGT:TGTTTGT
    Gene:
    MIR196B (Varview), HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TGTTTGT=0./0 (ALFA)
    TGTT=0.00049/3 (GnomAD)
    HGVS:
    2.

    rs1490812225 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      7:27168027 (GRCh38)
      7:27207646 (GRCh37)
      Canonical SPDI:
      NC_000007.14:27168026:G:C
      Gene:
      HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_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:
      3.

      rs1490622306 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        7:27163424 (GRCh38)
        7:27203043 (GRCh37)
        Canonical SPDI:
        NC_000007.14:27163423:C:G,NC_000007.14:27163423:C:T
        Gene:
        HOXA9 (Varview), HOXA10-HOXA9 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490245673 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:27169432 (GRCh38)
          7:27209051 (GRCh37)
          Canonical SPDI:
          NC_000007.14:27169431:G:A
          Gene:
          MIR196B (Varview), HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
          Functional Consequence:
          downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
          Validated:
          by frequency
          MAF:
          A=0.000009/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1489796536 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            7:27166118 (GRCh38)
            7:27205737 (GRCh37)
            Canonical SPDI:
            NC_000007.14:27166117:G:T
            Gene:
            HOXA9 (Varview), HOXA10-HOXA9 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1489712953 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              7:27164368 (GRCh38)
              7:27203987 (GRCh37)
              Canonical SPDI:
              NC_000007.14:27164367:A:T
              Gene:
              HOXA9 (Varview), HOXA10-HOXA9 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1489660101 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                7:27163454 (GRCh38)
                7:27203073 (GRCh37)
                Canonical SPDI:
                NC_000007.14:27163453:A:C,NC_000007.14:27163453:A:G
                Gene:
                HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1489578740 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:27166437 (GRCh38)
                  7:27206056 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:27166436:G:A
                  Gene:
                  HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489452348 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    7:27166225 (GRCh38)
                    7:27205844 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:27166224:G:T
                    Gene:
                    HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489376836 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:27169357 (GRCh38)
                      7:27208976 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:27169356:G:A
                      Gene:
                      MIR196B (Varview), HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1489016019 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        7:27160997 (GRCh38)
                        7:27200616 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:27160996:A:C
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1487919558 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          7:27163218 (GRCh38)
                          7:27202837 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:27163217:C:A,NC_000007.14:27163217:C:T
                          Gene:
                          HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487816836 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G,T [Show Flanks]
                            Chromosome:
                            7:27165814 (GRCh38)
                            7:27205433 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:27165813:C:A,NC_000007.14:27165813:C:G,NC_000007.14:27165813:C:T
                            Gene:
                            HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1487648949 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:27169906 (GRCh38)
                              7:27209525 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:27169905:G:A
                              Gene:
                              MIR196B (Varview), HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487616971 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                7:27168748 (GRCh38)
                                7:27208367 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:27168747:C:G,NC_000007.14:27168747:C:T
                                Gene:
                                HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1487488174 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:27161274 (GRCh38)
                                  7:27200893 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:27161273:A:G
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486384351 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    7:27162703 (GRCh38)
                                    7:27202322 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:27162702:C:A,NC_000007.14:27162702:C:T
                                    Gene:
                                    HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    T=0.000071/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1486311073 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->AGA [Show Flanks]
                                      Chromosome:
                                      7:27165780 (GRCh38)
                                      7:27205400 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:27165780:A:AAGA
                                      Gene:
                                      HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAGA=0./0 (ALFA)
                                      AAG=0.000015/4 (TOPMED)
                                      AAG=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486263532 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        7:27162195 (GRCh38)
                                        7:27201814 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:27162194:T:G
                                        Gene:
                                        HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486225427 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          7:27166286 (GRCh38)
                                          7:27205905 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:27166285:C:T
                                          Gene:
                                          HOXA9 (Varview), HOXA10-HOXA9 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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