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Items: 1 to 20 of 1093

1.

rs1490657554 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:37171385 (GRCh38)
    14:37640590 (GRCh37)
    Canonical SPDI:
    NC_000014.9:37171384:A:G
    Gene:
    SLC25A21 (Varview), SLC25A21-AS1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490635098 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      14:37170541 (GRCh38)
      14:37639746 (GRCh37)
      Canonical SPDI:
      NC_000014.9:37170540:C:G,NC_000014.9:37170540:C:T
      Gene:
      SLC25A21 (Varview), SLC25A21-AS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1490308430 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:37171240 (GRCh38)
        14:37640445 (GRCh37)
        Canonical SPDI:
        NC_000014.9:37171239:G:A
        Gene:
        SLC25A21 (Varview), SLC25A21-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,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)
        ...more
        HGVS:
        4.

        rs1489393925 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          14:37172591 (GRCh38)
          14:37641796 (GRCh37)
          Canonical SPDI:
          NC_000014.9:37172590:T:C
          Gene:
          SLC25A21 (Varview), SLC25A21-AS1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1488842763 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            14:37173039 (GRCh38)
            14:37642244 (GRCh37)
            Canonical SPDI:
            NC_000014.9:37173038:T:G
            Gene:
            SLC25A21 (Varview), SLC25A21-AS1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1488582144 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:37172551 (GRCh38)
              14:37641756 (GRCh37)
              Canonical SPDI:
              NC_000014.9:37172550:G:A
              Gene:
              SLC25A21 (Varview), SLC25A21-AS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              ...more
              HGVS:
              7.

              rs1487833432 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                14:37173475 (GRCh38)
                14:37642680 (GRCh37)
                Canonical SPDI:
                NC_000014.9:37173474:A:G
                Gene:
                SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000014/2 (GnomAD)
                G=0.00003/8 (TOPMED)
                ...more
                HGVS:
                8.

                rs1487505730 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  14:37172879 (GRCh38)
                  14:37642084 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:37172878:G:C
                  Gene:
                  SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1487183528 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:37173445 (GRCh38)
                    14:37642650 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:37173444:T:C
                    Gene:
                    SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1486953452 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      14:37172362 (GRCh38)
                      14:37641567 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:37172361:G:A
                      Gene:
                      SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1486618350 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G,T [Show Flanks]
                        Chromosome:
                        14:37171042 (GRCh38)
                        14:37640247 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:37171041:C:A,NC_000014.9:37171041:C:G,NC_000014.9:37171041:C:T
                        Gene:
                        SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        A=0.000071/1 (TOMMO)
                        ...more
                        HGVS:
                        12.

                        rs1486618018 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:37171139 (GRCh38)
                          14:37640344 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:37171138:G:A
                          Gene:
                          SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.00008/1 (ALFA)
                          HGVS:
                          13.

                          rs1486129510 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            14:37173643 (GRCh38)
                            14:37642848 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:37173642:T:C
                            Gene:
                            SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1485977522 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              14:37172603 (GRCh38)
                              14:37641808 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:37172602:G:A
                              Gene:
                              SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000007/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1485122013 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                14:37172121 (GRCh38)
                                14:37641326 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:37172120:C:G
                                Gene:
                                SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_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)
                                G=0.000531/9 (TOMMO)
                                ...more
                                HGVS:
                                16.

                                rs1484234692 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  14:37170605 (GRCh38)
                                  14:37639810 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:37170604:G:T
                                  Gene:
                                  SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_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=0.000014/2 (GnomAD)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1483344608 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:37172055 (GRCh38)
                                    14:37641260 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:37172054:C:T
                                    Gene:
                                    SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000035/1 (TOMMO)
                                    ...more
                                    HGVS:
                                    18.

                                    rs1482873247 has merged into rs1377957332 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GGGGG>-,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGGGGG [Show Flanks]
                                      Chromosome:
                                      14:37171112 (GRCh38)
                                      14:37640317 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:37171110:GGGGGG:G,NC_000014.9:37171110:GGGGGG:GGGGGGGGGG,NC_000014.9:37171110:GGGGGG:GGGGGGGGGGG,NC_000014.9:37171110:GGGGGG:GGGGGGGGGGGGGGGG
                                      Gene:
                                      SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GGGGGGGGGG=0./0 (ALFA)
                                      -=0.00219/14 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1481194777 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        14:37173953 (GRCh38)
                                        14:37643158 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:37173952:T:C
                                        Gene:
                                        SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0./0 (GnomAD)
                                        C=0.000011/3 (TOPMED)
                                        ...more
                                        HGVS:
                                        20.

                                        rs1480998025 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:37173911 (GRCh38)
                                          14:37643116 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:37173910:G:A
                                          Gene:
                                          SLC25A21 (Varview), SLC25A21-AS1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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