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Links from Nucleotide

Items: 1 to 20 of 332

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.

    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:
      3.

      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:
        4.

        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:
          5.

          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:
            6.

            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:
              7.

              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:
                8.

                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:
                  9.

                  rs1473978921 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:112924160 (GRCh38)
                    1:113466782 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:112924159: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=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1473576497 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:112923536 (GRCh38)
                      1:113466158 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:112923535:G:A
                      Gene:
                      SLC16A1 (Varview), AKR7A2P1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1469621439 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:112924582 (GRCh38)
                        1:113467204 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:112924581:C:T
                        Gene:
                        SLC16A1 (Varview), AKR7A2P1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000026/7 (TOPMED)
                        HGVS:
                        12.

                        rs1468617510 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          1:112924586 (GRCh38)
                          1:113467208 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:112924585:A:C
                          Gene:
                          SLC16A1 (Varview), AKR7A2P1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1467288248 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:112924142 (GRCh38)
                            1:113466764 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:112924141: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=0.000008/2 (TOPMED)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1465953089 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:112923675 (GRCh38)
                              1:113466297 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:112923674: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./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1464665642 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                1:112924216 (GRCh38)
                                1:113466838 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:112924215:T: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=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1460302344 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:112923987 (GRCh38)
                                  1:113466609 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:112923986:C:T
                                  Gene:
                                  SLC16A1 (Varview), AKR7A2P1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1451986258 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    1:112923573 (GRCh38)
                                    1:113466195 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:112923572:T:A,NC_000001.11:112923572:T:C
                                    Gene:
                                    SLC16A1 (Varview), AKR7A2P1 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    A=0.000177/3 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1451128506 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      1:112923788 (GRCh38)
                                      1:113466410 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:112923787:C:G,NC_000001.11:112923787:C:T
                                      Gene:
                                      SLC16A1 (Varview), AKR7A2P1 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1449270647 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:112923385 (GRCh38)
                                        1:113466007 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:112923384: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=0.000007/1 (GnomAD)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1447436816 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          1:112923873 (GRCh38)
                                          1:113466495 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:112923872:C:A,NC_000001.11:112923872: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=0.000011/3 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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