U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 163

1.

rs1482699850 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:48590458 (GRCh38)
    17:46667820 (GRCh37)
    Canonical SPDI:
    NC_000017.11:48590457:G:A
    Gene:
    HOXB3 (Varview), HOXB-AS3 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1481834269 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:48600454 (GRCh38)
      17:46677816 (GRCh37)
      Canonical SPDI:
      NC_000017.11:48600453:G:A
      Gene:
      HOXB6 (Varview), HOXB-AS3 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/1 (GnomAD_exomes)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1480484101 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        17:48602104 (GRCh38)
        17:46679466 (GRCh37)
        Canonical SPDI:
        NC_000017.11:48602103:G:C
        Gene:
        HOXB6 (Varview), HOXB-AS3 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1472644196 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          17:48600512 (GRCh38)
          17:46677874 (GRCh37)
          Canonical SPDI:
          NC_000017.11:48600511:A:C
          Gene:
          HOXB6 (Varview), HOXB-AS3 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1467721692 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:48602268 (GRCh38)
            17:46679630 (GRCh37)
            Canonical SPDI:
            NC_000017.11:48602267:C:T
            Gene:
            HOXB6 (Varview), HOXB-AS3 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1462209018 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              17:48600519 (GRCh38)
              17:46677881 (GRCh37)
              Canonical SPDI:
              NC_000017.11:48600518:C:A
              Gene:
              HOXB6 (Varview), HOXB-AS3 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              HGVS:
              7.

              rs1459609735 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                17:48600533 (GRCh38)
                17:46677895 (GRCh37)
                Canonical SPDI:
                NC_000017.11:48600532:T:G
                Gene:
                HOXB6 (Varview), HOXB-AS3 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                G=0.000008/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1453463165 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:48600498 (GRCh38)
                  17:46677860 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:48600497:C:T
                  Gene:
                  HOXB6 (Varview), HOXB-AS3 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000054/1 (ALFA)
                  T=0.000019/5 (TOPMED)
                  T=0.000023/3 (GnomAD_exomes)
                  T=0.000029/4 (GnomAD)
                  T=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1446604587 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    17:48602299 (GRCh38)
                    17:46679661 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:48602298:G:A,NC_000017.11:48602298:G:C
                    Gene:
                    HOXB6 (Varview), HOXB-AS3 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1438517477 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:48600474 (GRCh38)
                      17:46677836 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:48600473:C:T
                      Gene:
                      HOXB6 (Varview), HOXB-AS3 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000008/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1435552427 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:48590431 (GRCh38)
                        17:46667793 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:48590430:T:C
                        Gene:
                        HOXB3 (Varview), HOXB-AS3 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,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:
                        12.

                        rs1430065102 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:48600545 (GRCh38)
                          17:46677907 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:48600544:G:A
                          Gene:
                          HOXB6 (Varview), HOXB-AS3 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000895/4 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/1 (GnomAD_exomes)
                          A=0.000893/4 (Estonian)
                          HGVS:
                          13.

                          rs1426935828 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:48602224 (GRCh38)
                            17:46679586 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:48602223:A:G
                            Gene:
                            HOXB6 (Varview), HOXB-AS3 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000008/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1419842164 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              17:48600544 (GRCh38)
                              17:46677906 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:48600543:A:G
                              Gene:
                              HOXB6 (Varview), HOXB-AS3 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              HGVS:
                              15.

                              rs1411952003 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:48602127 (GRCh38)
                                17:46679489 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:48602126:G:A
                                Gene:
                                HOXB6 (Varview), HOXB-AS3 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1408635835 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  17:48600471 (GRCh38)
                                  17:46677833 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:48600470:C:G
                                  Gene:
                                  HOXB6 (Varview), HOXB-AS3 (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)
                                  HGVS:
                                  17.

                                  rs1407736564 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:48602269 (GRCh38)
                                    17:46679631 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:48602268:C:T
                                    Gene:
                                    HOXB6 (Varview), HOXB-AS3 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1407691904 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      17:48602276 (GRCh38)
                                      17:46679638 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:48602275:T:A
                                      Gene:
                                      HOXB6 (Varview), HOXB-AS3 (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=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1399527389 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:48600490 (GRCh38)
                                        17:46677852 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:48600489:C:T
                                        Gene:
                                        HOXB6 (Varview), HOXB-AS3 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000016/2 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1399062005 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:48602214 (GRCh38)
                                          17:46679576 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:48602213:C:T
                                          Gene:
                                          HOXB6 (Varview), HOXB-AS3 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000008/1 (GnomAD_exomes)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...