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Items: 1 to 20 of 1554

1.

rs1491084463 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    8:12130278 (GRCh38)
    8:11987787 (GRCh37)
    Canonical SPDI:
    NC_000008.11:12130276:AGA:A
    Gene:
    LOC392196 (Varview), FAM66D (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1490841839 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      8:12130156 (GRCh38)
      8:11987665 (GRCh37)
      Canonical SPDI:
      NC_000008.11:12130155:G:T
      Gene:
      LOC392196 (Varview), FAM66D (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:
      3.

      rs1490756906 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        8:12129020 (GRCh38)
        8:11986529 (GRCh37)
        Canonical SPDI:
        NC_000008.11:12129019:G:A
        Gene:
        LOC392196 (Varview), FAM66D (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000261/35 (GnomAD)
        HGVS:
        4.

        rs1490539225 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          8:12127510 (GRCh38)
          8:11985019 (GRCh37)
          Canonical SPDI:
          NC_000008.11:12127509:T:A
          Gene:
          LOC392196 (Varview), FAM66D (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.00031/2 (1000Genomes)
          A=0.00038/1 (KOREAN)
          A=0.00066/9 (TOMMO)
          A=0.00182/3 (Korea1K)
          HGVS:
          5.

          rs1490353129 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:12129923 (GRCh38)
            8:11987432 (GRCh37)
            Canonical SPDI:
            NC_000008.11:12129922:C:T
            Gene:
            LOC392196 (Varview), FAM66D (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000084/1 (ALFA)
            T=0.000015/2 (GnomAD)
            T=0.000123/2 (TOMMO)
            T=0.000382/1 (KOREAN)
            HGVS:
            6.

            rs1490208463 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              8:12128514 (GRCh38)
              8:11986023 (GRCh37)
              Canonical SPDI:
              NC_000008.11:12128513:C:A,NC_000008.11:12128513:C:T
              Gene:
              LOC392196 (Varview), FAM66D (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              T=0.000041/1 (TOMMO)
              T=0.000045/6 (GnomAD)
              HGVS:
              7.

              rs1488952799 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:12129540 (GRCh38)
                8:11987049 (GRCh37)
                Canonical SPDI:
                NC_000008.11:12129539:A:G
                Gene:
                LOC392196 (Varview), FAM66D (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488701337 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  8:12129377 (GRCh38)
                  8:11986886 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:12129376:T:C
                  Gene:
                  LOC392196 (Varview), FAM66D (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000038/10 (TOPMED)
                  HGVS:
                  9.

                  rs1488336461 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    8:12128930 (GRCh38)
                    8:11986439 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:12128929:C:G
                    Gene:
                    LOC392196 (Varview), FAM66D (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000037/5 (GnomAD)
                    HGVS:
                    10.

                    rs1488171357 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      8:12127415 (GRCh38)
                      8:11984924 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:12127414:G:A,NC_000008.11:12127414:G:T
                      Gene:
                      LOC392196 (Varview), FAM66D (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.003812/44 (ALFA)
                      T=0.001145/3 (KOREAN)
                      T=0.019636/2574 (GnomAD)
                      T=0.02436/156 (1000Genomes)
                      G=0.428571/6 (SGDP_PRJ)
                      HGVS:
                      11.

                      rs1488085614 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:12131142 (GRCh38)
                        8:11988651 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:12131141:C:T
                        Gene:
                        LOC392196 (Varview), FAM66D (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.0008/13 (ALFA)
                        T=0.00237/35 (TOMMO)
                        T=0.0042/7 (Korea1K)
                        T=0.00487/13 (KOREAN)
                        HGVS:
                        12.

                        rs1488054433 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          8:12130256 (GRCh38)
                          8:11987765 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:12130255:A:C,NC_000008.11:12130255:A:G
                          Gene:
                          LOC392196 (Varview), FAM66D (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000024/3 (GnomAD)
                          C=0.000156/1 (1000Genomes)
                          HGVS:
                          13.

                          rs1487464751 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:12130235 (GRCh38)
                            8:11987744 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:12130234:A:G
                            Gene:
                            LOC392196 (Varview), FAM66D (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1487353483 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              8:12129300 (GRCh38)
                              8:11986809 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:12129299:C:T
                              Gene:
                              LOC392196 (Varview), FAM66D (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000054/1 (ALFA)
                              T=0.000015/2 (GnomAD)
                              T=0.000082/1 (TOMMO)
                              HGVS:
                              15.

                              rs1487199595 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                8:12131047 (GRCh38)
                                8:11988556 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:12131046:T:G
                                Gene:
                                LOC392196 (Varview), FAM66D (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000075/10 (GnomAD)
                                G=0.000468/3 (1000Genomes)
                                HGVS:
                                16.

                                rs1486681556 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:12130439 (GRCh38)
                                  8:11987948 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:12130438:C:T
                                  Gene:
                                  LOC392196 (Varview), FAM66D (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1486525364 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    8:12130965 (GRCh38)
                                    8:11988474 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:12130964:C:A,NC_000008.11:12130964:C:G,NC_000008.11:12130964:C:T
                                    Gene:
                                    LOC392196 (Varview), FAM66D (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    C=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    18.

                                    rs1486200038 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      8:12130559 (GRCh38)
                                      8:11988068 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:12130558:A:G
                                      Gene:
                                      LOC392196 (Varview), FAM66D (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.00211/25 (ALFA)
                                      A=0./0 (SGDP_PRJ)
                                      G=0.00177/25 (TOMMO)
                                      G=0.00424/7 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1485686858 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        8:12128495 (GRCh38)
                                        8:11986004 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:12128494:TT:T
                                        Gene:
                                        LOC392196 (Varview), FAM66D (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        TT=0.000084/1 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485413737 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          8:12128005 (GRCh38)
                                          8:11985514 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:12128004:C:A
                                          Gene:
                                          LOC392196 (Varview), FAM66D (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000011/3 (TOPMED)
                                          A=0.000156/1 (1000Genomes)
                                          HGVS:

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