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Links from Gene

Items: 1 to 20 of 989

1.

rs1490832493 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    7:116952700 (GRCh38)
    7:116592754 (GRCh37)
    Canonical SPDI:
    NC_000007.14:116952699:T:C
    Gene:
    ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
    HGVS:
    2.

    rs1490402355 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      7:116954903 (GRCh38)
      7:116594958 (GRCh37)
      Canonical SPDI:
      NC_000007.14:116954903:TTT:TTTT
      Gene:
      ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTT=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490255593 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        7:116955058 (GRCh38)
        7:116595112 (GRCh37)
        Canonical SPDI:
        NC_000007.14:116955057:C:G
        Gene:
        ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000111/1 (ALFA)
        G=0.000014/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1488726279 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:116953764 (GRCh38)
          7:116593818 (GRCh37)
          Canonical SPDI:
          NC_000007.14:116953763:G:A
          Gene:
          ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000022/3 (GnomAD)
          A=0.000035/1 (TOMMO)
          HGVS:
          5.

          rs1488631193 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            7:116952789 (GRCh38)
            7:116592843 (GRCh37)
            Canonical SPDI:
            NC_000007.14:116952788:T:C,NC_000007.14:116952788:T:G
            Gene:
            ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
            Functional Consequence:
            2KB_upstream_variant,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)
            C=0.000071/1 (TOMMO)
            HGVS:
            6.

            rs1488068846 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              7:116954371 (GRCh38)
              7:116594425 (GRCh37)
              Canonical SPDI:
              NC_000007.14:116954370:G:A
              Gene:
              ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1487771386 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:116954350 (GRCh38)
                7:116594404 (GRCh37)
                Canonical SPDI:
                NC_000007.14:116954349:G:A
                Gene:
                ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1487556025 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  7:116954276 (GRCh38)
                  7:116594330 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:116954275:G:A,NC_000007.14:116954275:G:C
                  Gene:
                  ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  C=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1486732223 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    7:116956165 (GRCh38)
                    7:116596219 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:116956164:C:A,NC_000007.14:116956164:C:G
                    Gene:
                    ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0./0 (GnomAD)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1486715409 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:116952970 (GRCh38)
                      7:116593024 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:116952969:C:T
                      Gene:
                      ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000011/3 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1486699806 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:116955007 (GRCh38)
                        7:116595061 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:116955006:A:G
                        Gene:
                        ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_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:
                        12.

                        rs1486424916 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          7:116954118 (GRCh38)
                          7:116594172 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:116954117:C:G
                          Gene:
                          ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000014/2 (GnomAD)
                          G=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1485007446 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:116953700 (GRCh38)
                            7:116593754 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:116953699:T:C
                            Gene:
                            ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000025/5 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1484761264 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              7:116955035 (GRCh38)
                              7:116595089 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:116955034:C:G,NC_000007.14:116955034:C:T
                              Gene:
                              ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000071/1 (TOMMO)
                              HGVS:
                              15.

                              rs1484476846 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:116953413 (GRCh38)
                                7:116593467 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:116953412:C:T
                                Gene:
                                ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000067/9 (GnomAD)
                                T=0.000076/20 (TOPMED)
                                HGVS:
                                16.

                                rs1484426981 has merged into rs1056592348 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GCGGCG>-,GCG,GCGGCGGCG,GCGGCGGCGGCG [Show Flanks]
                                  Chromosome:
                                  7:116953460 (GRCh38)
                                  7:116593514 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:116953447:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCG,NC_000007.14:116953447:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCGGCG,NC_000007.14:116953447:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCGGCG,NC_000007.14:116953447:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCGGCGGCG
                                  Gene:
                                  ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GCGGCGGCGGCGGCGGCGGCG=0./0 (ALFA)
                                  GCG=0.00025/4 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1483624043 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:116956291 (GRCh38)
                                    7:116596345 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:116956290:A:G
                                    Gene:
                                    ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482167743 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:116953362 (GRCh38)
                                      7:116593416 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:116953361:G:A
                                      Gene:
                                      ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1482161032 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:116955126 (GRCh38)
                                        7:116595180 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:116955125:G:A
                                        Gene:
                                        ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482141748 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          7:116953907 (GRCh38)
                                          7:116593961 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:116953906:G:A
                                          Gene:
                                          ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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