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Links from Gene

Items: 1 to 20 of 4716

1.

rs1491301407 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    10:4970972 (GRCh38)
    10:5013165 (GRCh37)
    Canonical SPDI:
    NC_000010.11:4970972::C
    Gene:
    AKR1C1 (Varview), LOC124902365 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.003456/41 (ALFA)
    C=0.003877/540 (GnomAD)
    HGVS:
    2.

    rs1490872443 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:4969211 (GRCh38)
      10:5011403 (GRCh37)
      Canonical SPDI:
      NC_000010.11:4969210:C:T
      Gene:
      AKR1C1 (Varview)
      Functional Consequence:
      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:
      3.

      rs1490807453 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        10:4974286 (GRCh38)
        10:5016478 (GRCh37)
        Canonical SPDI:
        NC_000010.11:4974285:T:G
        Gene:
        AKR1C1 (Varview), LOC124902365 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490781738 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:4975198 (GRCh38)
          10:5017390 (GRCh37)
          Canonical SPDI:
          NC_000010.11:4975197:A:G
          Gene:
          AKR1C1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1490730298 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            10:4969294 (GRCh38)
            10:5011486 (GRCh37)
            Canonical SPDI:
            NC_000010.11:4969293:A:C,NC_000010.11:4969293:A:G
            Gene:
            AKR1C1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000324/6 (ALFA)
            C=0.000068/18 (TOPMED)
            HGVS:
            6.

            rs1490566561 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:4968629 (GRCh38)
              10:5010821 (GRCh37)
              Canonical SPDI:
              NC_000010.11:4968628:C:T
              Gene:
              AKR1C1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000034/9 (TOPMED)
              T=0.000043/6 (GnomAD)
              C=0.5/1 (SGDP_PRJ)
              HGVS:
              7.

              rs1490534086 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                10:4961662 (GRCh38)
                10:5003854 (GRCh37)
                Canonical SPDI:
                NC_000010.11:4961661:C:A,NC_000010.11:4961661:C:T
                Gene:
                AKR1C1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                T=0.000071/1 (TOMMO)
                HGVS:
                8.

                rs1490432294 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  10:4968052 (GRCh38)
                  10:5010244 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:4968051:G:C
                  Gene:
                  AKR1C1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490314881 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    10:4973905 (GRCh38)
                    10:5016097 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:4973904:A:C
                    Gene:
                    AKR1C1 (Varview), LOC124902365 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.001179/17 (ALFA)
                    C=0.000582/154 (TOPMED)
                    C=0.001316/92 (GnomAD)
                    C=0.002283/1 (NorthernSweden)
                    HGVS:
                    10.

                    rs1490289415 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      10:4974797 (GRCh38)
                      10:5016989 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:4974796:T:A
                      Gene:
                      AKR1C1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1489851886 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:4980178 (GRCh38)
                        10:5022370 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:4980177:G:A
                        Gene:
                        AKR1C1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1489824902 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:4973593 (GRCh38)
                          10:5015785 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:4973592:C:T
                          Gene:
                          AKR1C1 (Varview), LOC124902365 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000015/4 (TOPMED)
                          T=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1489688717 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            10:4976022 (GRCh38)
                            10:5018214 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:4976021:C:G
                            Gene:
                            AKR1C1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000009/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489582589 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              10:4963687 (GRCh38)
                              10:5005879 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:4963686:C:G,NC_000010.11:4963686:C:T
                              Gene:
                              AKR1C1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489564413 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                10:4965145 (GRCh38)
                                10:5007337 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:4965144:C:A
                                Gene:
                                AKR1C1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489447114 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  10:4973522 (GRCh38)
                                  10:5015714 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:4973521:T:
                                  Gene:
                                  AKR1C1 (Varview), LOC124902365 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489339981 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    10:4980166 (GRCh38)
                                    10:5022358 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:4980165:T:C
                                    Gene:
                                    AKR1C1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489288630 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      10:4979374 (GRCh38)
                                      10:5021566 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:4979373:C:
                                      Gene:
                                      AKR1C1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489281058 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:4964195 (GRCh38)
                                        10:5006387 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:4964194:T:C
                                        Gene:
                                        AKR1C1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489161280 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:4977183 (GRCh38)
                                          10:5019375 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:4977182:T:C
                                          Gene:
                                          AKR1C1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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