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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490937047 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:193102986 (GRCh38)
    1:193072116 (GRCh37)
    Canonical SPDI:
    NC_000001.11:193102985:G:A
    Gene:
    GLRX2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000015/4 (TOPMED)
    A=0.000021/3 (GnomAD)
    HGVS:
    2.

    rs1490499735 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      1:193102498 (GRCh38)
      1:193071628 (GRCh37)
      Canonical SPDI:
      NC_000001.11:193102497:T:G
      Gene:
      GLRX2 (Varview)
      Functional Consequence:
      intron_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)
      HGVS:
      3.

      rs1490243304 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:193101431 (GRCh38)
        1:193070561 (GRCh37)
        Canonical SPDI:
        NC_000001.11:193101430:A:G
        Gene:
        GLRX2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        G=0.000342/1 (KOREAN)
        HGVS:
        4.

        rs1490133550 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:193103986 (GRCh38)
          1:193073116 (GRCh37)
          Canonical SPDI:
          NC_000001.11:193103985:G:A
          Gene:
          GLRX2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489738689 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:193099812 (GRCh38)
            1:193068942 (GRCh37)
            Canonical SPDI:
            NC_000001.11:193099811:G:C
            Gene:
            GLRX2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1489712763 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:193100945 (GRCh38)
              1:193070075 (GRCh37)
              Canonical SPDI:
              NC_000001.11:193100944:T:C
              Gene:
              GLRX2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489585774 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                1:193105510 (GRCh38)
                1:193074640 (GRCh37)
                Canonical SPDI:
                NC_000001.11:193105509:C:A,NC_000001.11:193105509:C:T
                Gene:
                GLRX2 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1489344897 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:193105357 (GRCh38)
                  1:193074487 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:193105356:G:A
                  Gene:
                  GLRX2 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant
                  HGVS:
                  9.

                  rs1489332248 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    1:193107388 (GRCh38)
                    1:193076518 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:193107387:G:T
                    Gene:
                    GLRX2 (Varview)
                    Functional Consequence:
                    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:
                    10.

                    rs1489207395 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:193099650 (GRCh38)
                      1:193068780 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:193099649:T:C
                      Gene:
                      GLRX2 (Varview)
                      Functional Consequence:
                      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:
                      11.

                      rs1488861465 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        1:193108352 (GRCh38)
                        1:193077482 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:193108351:G:T
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1488556649 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:193107914 (GRCh38)
                          1:193077044 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:193107913:G:A
                          Gene:
                          GLRX2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1488464008 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            1:193105327 (GRCh38)
                            1:193074457 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:193105326:C:A
                            Gene:
                            GLRX2 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1487805796 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              1:193102044 (GRCh38)
                              1:193071174 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:193102043:A:T
                              Gene:
                              GLRX2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000015/4 (TOPMED)
                              T=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1487754533 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:193103088 (GRCh38)
                                1:193072218 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:193103087:A:G
                                Gene:
                                GLRX2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000021/3 (GnomAD)
                                G=0.000038/10 (TOPMED)
                                HGVS:
                                16.

                                rs1487741509 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:193099915 (GRCh38)
                                  1:193069045 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:193099914:A:G
                                  Gene:
                                  GLRX2 (Varview)
                                  Functional Consequence:
                                  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:
                                  17.

                                  rs1487509746 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->C [Show Flanks]
                                    Chromosome:
                                    1:193105612 (GRCh38)
                                    1:193074743 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:193105612:C:CC
                                    Gene:
                                    GLRX2 (Varview)
                                    Functional Consequence:
                                    frameshift_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CC=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487366573 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:193106522 (GRCh38)
                                      1:193075652 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:193106521:C:T
                                      Gene:
                                      GLRX2 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487314199 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:193107485 (GRCh38)
                                        1:193076615 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:193107484:G:A
                                        Gene:
                                        GLRX2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487206577 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G,T [Show Flanks]
                                          Chromosome:
                                          1:193100211 (GRCh38)
                                          1:193069341 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:193100210:A:C,NC_000001.11:193100210:A:G,NC_000001.11:193100210:A:T
                                          Gene:
                                          GLRX2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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