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 Gene

Items: 1 to 20 of 1623

1.

rs1490892150 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:174995637 (GRCh38)
    1:174964774 (GRCh37)
    Canonical SPDI:
    NC_000001.11:174995636:G:A
    Gene:
    RABGAP1L (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490492500 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:174999300 (GRCh38)
      1:174968437 (GRCh37)
      Canonical SPDI:
      NC_000001.11:174999299:C:T
      Gene:
      CACYBP (Varview), LOC105371622 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490180620 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:175000434 (GRCh38)
        1:174969570 (GRCh37)
        Canonical SPDI:
        NC_000001.11:175000433:G:C
        Gene:
        CACYBP (Varview), LOC105371622 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489764692 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:175000033 (GRCh38)
          1:174969169 (GRCh37)
          Canonical SPDI:
          NC_000001.11:175000032:A:G
          Gene:
          CACYBP (Varview), LOC105371622 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000036/5 (GnomAD)
          HGVS:
          5.

          rs1489584889 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GTA [Show Flanks]
            Chromosome:
            1:175000819 (GRCh38)
            1:174969956 (GRCh37)
            Canonical SPDI:
            NC_000001.11:175000819:GTA:GTAGTA
            Gene:
            CACYBP (Varview), LOC105371622 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GTAGTA=0.000071/1 (ALFA)
            GTA=0.000057/8 (GnomAD)
            GTA=0.000079/21 (TOPMED)
            HGVS:
            6.

            rs1489552429 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:175000128 (GRCh38)
              1:174969264 (GRCh37)
              Canonical SPDI:
              NC_000001.11:175000127:T:C
              Gene:
              CACYBP (Varview), LOC105371622 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1488887741 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                1:174996369 (GRCh38)
                1:174965507 (GRCh37)
                Canonical SPDI:
                NC_000001.11:174996369:C:CC
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1488788654 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  1:174999974 (GRCh38)
                  1:174969110 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:174999973:G:A,NC_000001.11:174999973:G:T
                  Gene:
                  CACYBP (Varview), LOC105371622 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.00006/1 (TOMMO)
                  HGVS:
                  9.

                  rs1487778107 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    1:174998527 (GRCh38)
                    1:174967664 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:174998526:G:A,NC_000001.11:174998526:G:T
                    Gene:
                    CACYBP (Varview), LOC105371622 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487669336 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      1:174998767 (GRCh38)
                      1:174967905 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:174998767::G
                      Gene:
                      CACYBP (Varview), LOC105371622 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487547960 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        1:175000838 (GRCh38)
                        1:174969974 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:175000837:G:A,NC_000001.11:175000837:G:C
                        Gene:
                        CACYBP (Varview), LOC105371622 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1487190619 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G,T [Show Flanks]
                          Chromosome:
                          1:175000344 (GRCh38)
                          1:174969480 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:175000343:A:C,NC_000001.11:175000343:A:G,NC_000001.11:175000343:A:T
                          Gene:
                          CACYBP (Varview), LOC105371622 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487005202 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:175001124 (GRCh38)
                            1:174970260 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:175001123:G:C
                            Gene:
                            CACYBP (Varview), LOC105371622 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000008/2 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            15.

                            rs1485796971 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              1:174996101 (GRCh38)
                              1:174965238 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:174996100:A:C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              16.

                              rs1485491572 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:174996582 (GRCh38)
                                1:174965719 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:174996581:C:T
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                17.

                                rs1485423856 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:174999773 (GRCh38)
                                  1:174968909 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:174999772:C:T
                                  Gene:
                                  CACYBP (Varview), LOC105371622 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0./0 (KOREAN)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1485134334 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    1:174996224 (GRCh38)
                                    1:174965361 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:174996223:G:C
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1484175513 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:174997427 (GRCh38)
                                      1:174966564 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:174997426:G:C
                                      Gene:
                                      LOC105371622 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1483871719 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        A>G
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:

                                        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...