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Items: 1 to 20 of 972

1.

rs1488417722 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:53441045 (GRCh38)
    1:53906718 (GRCh37)
    Canonical SPDI:
    NC_000001.11:53441044:T:C
    Gene:
    SLC25A3P1 (Varview), LOC105378733 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488218547 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:53437870 (GRCh38)
      1:53903543 (GRCh37)
      Canonical SPDI:
      NC_000001.11:53437869:C:T
      Gene:
      SLC25A3P1 (Varview), LOC105378733 (Varview)
      Functional Consequence:
      500B_downstream_variant,upstream_transcript_variant,downstream_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.

      rs1486580179 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:53438392 (GRCh38)
        1:53904065 (GRCh37)
        Canonical SPDI:
        NC_000001.11:53438391:C:T
        Gene:
        SLC25A3P1 (Varview), LOC105378733 (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=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1486245062 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          1:53438772 (GRCh38)
          1:53904445 (GRCh37)
          Canonical SPDI:
          NC_000001.11:53438771:T:C,NC_000001.11:53438771:T:G
          Gene:
          SLC25A3P1 (Varview), LOC105378733 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          C=0.001638/3 (Korea1K)
          HGVS:
          5.

          rs1486137039 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            1:53439554 (GRCh38)
            1:53905227 (GRCh37)
            Canonical SPDI:
            NC_000001.11:53439553:G:A,NC_000001.11:53439553:G:C
            Gene:
            SLC25A3P1 (Varview), LOC105378733 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000054/1 (ALFA)
            C=0.000029/4 (GnomAD)
            C=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1486058178 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:53439280 (GRCh38)
              1:53904953 (GRCh37)
              Canonical SPDI:
              NC_000001.11:53439279:C:T
              Gene:
              SLC25A3P1 (Varview), LOC105378733 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              T=0.000425/7 (TOMMO)
              T=0.000685/2 (KOREAN)
              HGVS:
              7.

              rs1486035841 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                1:53441955 (GRCh38)
                1:53907629 (GRCh37)
                Canonical SPDI:
                NC_000001.11:53441955::G
                Gene:
                SLC25A3P1 (Varview), LOC105378733 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000034/9 (TOPMED)
                G=0.00005/7 (GnomAD)
                HGVS:
                8.

                rs1484688772 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:53439708 (GRCh38)
                  1:53905381 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:53439707:T:C
                  Gene:
                  SLC25A3P1 (Varview), LOC105378733 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1484502178 has merged into rs967633579 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>-,TT [Show Flanks]
                    Chromosome:
                    1:53440455 (GRCh38)
                    1:53906128 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:53440454:TTTTTTTT:TTTTTTT,NC_000001.11:53440454:TTTTTTTT:TTTTTTTTT
                    Gene:
                    SLC25A3P1 (Varview), LOC105378733 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTT=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1484469040 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:53438606 (GRCh38)
                      1:53904279 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:53438605:G:A
                      Gene:
                      SLC25A3P1 (Varview), LOC105378733 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.000084/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484358571 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:53440180 (GRCh38)
                        1:53905853 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:53440179:C:T
                        Gene:
                        SLC25A3P1 (Varview), LOC105378733 (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)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1482600629 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:53440530 (GRCh38)
                          1:53906203 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:53440529:C:A
                          Gene:
                          SLC25A3P1 (Varview), LOC105378733 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1481194975 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:53440193 (GRCh38)
                            1:53905866 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:53440192:G:C
                            Gene:
                            SLC25A3P1 (Varview), LOC105378733 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1480724209 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:53441767 (GRCh38)
                              1:53907440 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:53441766:G:T
                              Gene:
                              SLC25A3P1 (Varview), LOC105378733 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1476095877 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:53441730 (GRCh38)
                                1:53907403 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:53441729:G:A
                                Gene:
                                SLC25A3P1 (Varview), LOC105378733 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1475719921 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:53440764 (GRCh38)
                                  1:53906437 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:53440763:C:G
                                  Gene:
                                  SLC25A3P1 (Varview), LOC105378733 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1475583071 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    1:53441811 (GRCh38)
                                    1:53907484 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:53441810:C:G,NC_000001.11:53441810:C:T
                                    Gene:
                                    SLC25A3P1 (Varview), LOC105378733 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1475539590 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:53439493 (GRCh38)
                                      1:53905166 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:53439492:A:G
                                      Gene:
                                      SLC25A3P1 (Varview), LOC105378733 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1475340549 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:53438921 (GRCh38)
                                        1:53904594 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:53438920:G:A
                                        Gene:
                                        SLC25A3P1 (Varview), LOC105378733 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1473953361 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:53439201 (GRCh38)
                                          1:53904874 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:53439200:T:C
                                          Gene:
                                          SLC25A3P1 (Varview), LOC105378733 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_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:

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