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Links from Nucleotide

Items: 1 to 20 of 387

1.

rs1490780600 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:1043714 (GRCh38)
    10:1089654 (GRCh37)
    Canonical SPDI:
    NC_000010.11:1043713:G:A
    Gene:
    IDI1 (Varview), IDI2-AS1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    A=0.000007/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1489438802 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      10:1022732 (GRCh38)
      10:1068672 (GRCh37)
      Canonical SPDI:
      NC_000010.11:1022731:C:G
      Gene:
      IDI2-AS1 (Varview), IDI2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      HGVS:
      3.

      rs1486180000 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        10:1043965 (GRCh38)
        10:1089905 (GRCh37)
        Canonical SPDI:
        NC_000010.11:1043964:T:C
        Gene:
        IDI1 (Varview), IDI2-AS1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1483583249 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          10:1044159 (GRCh38)
          10:1090099 (GRCh37)
          Canonical SPDI:
          NC_000010.11:1044158:C:T
          Gene:
          IDI1 (Varview), IDI2-AS1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000031/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1483362574 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            10:1022733 (GRCh38)
            10:1068673 (GRCh37)
            Canonical SPDI:
            NC_000010.11:1022732:T:C
            Gene:
            IDI2-AS1 (Varview), IDI2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1481349075 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              10:1043641 (GRCh38)
              10:1089581 (GRCh37)
              Canonical SPDI:
              NC_000010.11:1043640:A:C
              Gene:
              IDI1 (Varview), IDI2-AS1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000007/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1479426324 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                10:1044074 (GRCh38)
                10:1090014 (GRCh37)
                Canonical SPDI:
                NC_000010.11:1044073:G:C
                Gene:
                IDI1 (Varview), IDI2-AS1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1479343169 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:1043564 (GRCh38)
                  10:1089504 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:1043563:T:C
                  Gene:
                  IDI1 (Varview), IDI2-AS1 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000007/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1478181638 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:1035950 (GRCh38)
                    10:1081890 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:1035949:C:T
                    Gene:
                    IDI2-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000014/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1475378236 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:1035938 (GRCh38)
                      10:1081878 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:1035937:G:T
                      Gene:
                      IDI2-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1473440589 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        10:1022748 (GRCh38)
                        10:1068688 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:1022747:A:T
                        Gene:
                        IDI2-AS1 (Varview), IDI2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        HGVS:
                        12.

                        rs1472169801 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          10:1043640 (GRCh38)
                          10:1089580 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:1043639:A:G
                          Gene:
                          IDI1 (Varview), IDI2-AS1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000084/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1470218707 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:1044050 (GRCh38)
                            10:1089990 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:1044049:T:C
                            Gene:
                            IDI1 (Varview), IDI2-AS1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_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:
                            14.

                            rs1464482350 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              10:1035895 (GRCh38)
                              10:1081835 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:1035894:A:C
                              Gene:
                              IDI2-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000021/3 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1462732162 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:1043811 (GRCh38)
                                10:1089751 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:1043810:G:A
                                Gene:
                                IDI1 (Varview), IDI2-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_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.

                                rs1460271986 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  10:1022655 (GRCh38)
                                  10:1068595 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:1022654:A:C,NC_000010.11:1022654:A:G
                                  Gene:
                                  IDI2-AS1 (Varview), IDI2 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.00007/1 (ALFA)
                                  HGVS:
                                  17.

                                  rs1459823355 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    10:1043742 (GRCh38)
                                    10:1089682 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:1043741:A:T
                                    Gene:
                                    IDI1 (Varview), IDI2-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000007/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1459792205 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      10:1043930 (GRCh38)
                                      10:1089870 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:1043929:T:G
                                      Gene:
                                      IDI1 (Varview), IDI2-AS1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1454725781 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:1043999 (GRCh38)
                                        10:1089939 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:1043998:C:T
                                        Gene:
                                        IDI1 (Varview), IDI2-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000071/2 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1452022230 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:1043799 (GRCh38)
                                          10:1089739 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:1043798:C:T
                                          Gene:
                                          IDI1 (Varview), IDI2-AS1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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