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 913

1.

rs1489681240 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:112924042 (GRCh38)
    1:113466664 (GRCh37)
    Canonical SPDI:
    NC_000001.11:112924041:T:C
    Gene:
    SLC16A1 (Varview), AKR7A2P1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000015/4 (TOPMED)
    C=0.000021/3 (GnomAD)
    HGVS:
    2.

    rs1489565844 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:112925006 (GRCh38)
      1:113467628 (GRCh37)
      Canonical SPDI:
      NC_000001.11:112925005:C:T
      Gene:
      SLC16A1 (Varview), AKR7A2P1 (Varview)
      Functional Consequence:
      intron_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1488756772 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:112922813 (GRCh38)
        1:113465435 (GRCh37)
        Canonical SPDI:
        NC_000001.11:112922812:A:G
        Gene:
        SLC16A1 (Varview), AKR7A2P1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000057/15 (TOPMED)
        HGVS:
        4.

        rs1485918012 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:112921422 (GRCh38)
          1:113464044 (GRCh37)
          Canonical SPDI:
          NC_000001.11:112921421:A:G
          Gene:
          SLC16A1 (Varview), AKR7A2P1 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1485762792 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            1:112922512 (GRCh38)
            1:113465134 (GRCh37)
            Canonical SPDI:
            NC_000001.11:112922511:G:A,NC_000001.11:112922511:G:T
            Gene:
            SLC16A1 (Varview), AKR7A2P1 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000019/5 (TOPMED)
            A=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1484728429 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              1:112923804 (GRCh38)
              1:113466426 (GRCh37)
              Canonical SPDI:
              NC_000001.11:112923803:G:C
              Gene:
              SLC16A1 (Varview), AKR7A2P1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1484616362 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                1:112924827 (GRCh38)
                1:113467449 (GRCh37)
                Canonical SPDI:
                NC_000001.11:112924826:A:C
                Gene:
                SLC16A1 (Varview), AKR7A2P1 (Varview)
                Functional Consequence:
                intron_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1483704635 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  1:112923938 (GRCh38)
                  1:113466560 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:112923937:T:A
                  Gene:
                  SLC16A1 (Varview), AKR7A2P1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1483684940 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:112924130 (GRCh38)
                    1:113466752 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:112924129:C:A
                    Gene:
                    SLC16A1 (Varview), AKR7A2P1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1482725642 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:112923479 (GRCh38)
                      1:113466101 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:112923478:G:A
                      Gene:
                      SLC16A1 (Varview), AKR7A2P1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000015/4 (TOPMED)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1482655754 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:112923901 (GRCh38)
                        1:113466523 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:112923900:C:T
                        Gene:
                        SLC16A1 (Varview), AKR7A2P1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_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.

                        rs1482605767 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:112922997 (GRCh38)
                          1:113465619 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:112922996:G:A
                          Gene:
                          SLC16A1 (Varview), AKR7A2P1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_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)
                          A=0.00006/1 (TOMMO)
                          HGVS:
                          13.

                          rs1481099842 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            1:112922482 (GRCh38)
                            1:113465104 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:112922481:T:C,NC_000001.11:112922481:T:G
                            Gene:
                            SLC16A1 (Varview), AKR7A2P1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            C=0.000071/1 (TOMMO)
                            HGVS:
                            14.

                            rs1480790453 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ATGA>- [Show Flanks]
                              Chromosome:
                              1:112922209 (GRCh38)
                              1:113464831 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:112922203:AATGAATGA:AATGA
                              Gene:
                              SLC16A1 (Varview), AKR7A2P1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AATGA=0./0 (ALFA)
                              -=0.000021/3 (GnomAD)
                              -=0.000026/7 (TOPMED)
                              HGVS:
                              15.

                              rs1480263750 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                1:112921835 (GRCh38)
                                1:113464457 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:112921834:T:A
                                Gene:
                                SLC16A1 (Varview), AKR7A2P1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000023/6 (TOPMED)
                                A=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1479290855 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:112923575 (GRCh38)
                                  1:113466197 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:112923574:C:T
                                  Gene:
                                  SLC16A1 (Varview), AKR7A2P1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000061/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1477181212 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    1:112921473 (GRCh38)
                                    1:113464095 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:112921472:A:G,NC_000001.11:112921472:A:T
                                    Gene:
                                    SLC16A1 (Varview), AKR7A2P1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000177/3 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1475147207 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:112924934 (GRCh38)
                                      1:113467556 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:112924933:C:T
                                      Gene:
                                      SLC16A1 (Varview), AKR7A2P1 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1474851201 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:112921488 (GRCh38)
                                        1:113464110 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:112921487:G:A
                                        Gene:
                                        SLC16A1 (Varview), AKR7A2P1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1474169364 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:112924465 (GRCh38)
                                          1:113467087 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:112924464:A:G
                                          Gene:
                                          SLC16A1 (Varview), AKR7A2P1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

                                          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...