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Links from Nucleotide

Items: 1 to 20 of 2106

1.

rs1491026802 has merged into rs35183663 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,A,AAA,AAAA [Show Flanks]
    Chromosome:
    3:57092600 (GRCh38)
    3:57126628 (GRCh37)
    Canonical SPDI:
    NC_000003.12:57092588:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:57092588:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:57092588:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:57092588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
    Gene:
    IL17RD (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0.003/18 (ALFA)
    A=0.2729/1012 (TWINSUK)
    A=0.2737/1055 (ALSPAC)
    A=0.4/16 (GENOME_DK)
    A=0.4639/2323 (1000Genomes)
    HGVS:
    NC_000003.12:g.57092600_57092601del, NC_000003.12:g.57092601del, NC_000003.12:g.57092601dup, NC_000003.12:g.57092600_57092601dup, NC_000003.11:g.57126628_57126629del, NC_000003.11:g.57126629del, NC_000003.11:g.57126629dup, NC_000003.11:g.57126628_57126629dup, NG_047158.1:g.82728_82729del, NG_047158.1:g.82729del, NG_047158.1:g.82729dup, NG_047158.1:g.82728_82729dup, NM_017563.5:c.*3803_*3804del, NM_017563.5:c.*3804del, NM_017563.5:c.*3804dup, NM_017563.5:c.*3803_*3804dup, NM_017563.4:c.*3803_*3804del, NM_017563.4:c.*3804del, NM_017563.4:c.*3804dup, NM_017563.4:c.*3803_*3804dup, NM_017563.3:c.*3803_*3804del, NM_017563.3:c.*3804del, NM_017563.3:c.*3804dup, NM_017563.3:c.*3803_*3804dup, NM_001318864.2:c.*3803_*3804del, NM_001318864.2:c.*3804del, NM_001318864.2:c.*3804dup, NM_001318864.2:c.*3803_*3804dup, NM_001318864.1:c.*3803_*3804del, NM_001318864.1:c.*3804del, NM_001318864.1:c.*3804dup, NM_001318864.1:c.*3803_*3804dup, XM_005265238.5:c.*3803_*3804del, XM_005265238.5:c.*3804del, XM_005265238.5:c.*3804dup, XM_005265238.5:c.*3803_*3804dup, XM_005265238.4:c.*3803_*3804del, XM_005265238.4:c.*3804del, XM_005265238.4:c.*3804dup, XM_005265238.4:c.*3803_*3804dup, XM_005265238.1:c.*3803_*3804del, XM_005265238.1:c.*3804del, XM_005265238.1:c.*3804dup, XM_005265238.1:c.*3803_*3804dup, XM_011533849.2:c.*3803_*3804del, XM_011533849.2:c.*3804del, XM_011533849.2:c.*3804dup, XM_011533849.2:c.*3803_*3804dup, XM_047448369.1:c.*3803_*3804del, XM_047448369.1:c.*3804del, XM_047448369.1:c.*3804dup, XM_047448369.1:c.*3803_*3804dup, NM_001080973.1:c.*3803_*3804del, NM_001080973.1:c.*3804del, NM_001080973.1:c.*3804dup, NM_001080973.1:c.*3803_*3804dup
    2.
    5.

    rs1490239634 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:57090912 (GRCh38)
      3:57124940 (GRCh37)
      Canonical SPDI:
      NC_000003.12:57090911:A:G
      Gene:
      IL17RD (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000071/1 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      7.

      rs1489639998 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        3:57090402 (GRCh38)
        3:57124430 (GRCh37)
        Canonical SPDI:
        NC_000003.12:57090401:A:C
        Gene:
        IL17RD (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000019/5 (TOPMED)
        C=0.000021/3 (GnomAD)
        HGVS:
        8.

        rs1489520613 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:57090034 (GRCh38)
          3:57124062 (GRCh37)
          Canonical SPDI:
          NC_000003.12:57090033:T:C
          Gene:
          IL17RD (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000214/3 (ALFA)
          C=0.000042/11 (TOPMED)
          C=0.000043/6 (GnomAD)
          HGVS:
          9.

          rs1489493480 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:57094107 (GRCh38)
            3:57128135 (GRCh37)
            Canonical SPDI:
            NC_000003.12:57094106:C:T
            Gene:
            IL17RD (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            HGVS:
            11.

            rs1488515482 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:57094651 (GRCh38)
              3:57128679 (GRCh37)
              Canonical SPDI:
              NC_000003.12:57094650:C:T
              Gene:
              IL17RD (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              13.

              rs1488370311 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:57092149 (GRCh38)
                3:57126177 (GRCh37)
                Canonical SPDI:
                NC_000003.12:57092148:A:G
                Gene:
                IL17RD (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                14.

                rs1487857187 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  3:57093553 (GRCh38)
                  3:57127581 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:57093552:G:T
                  Gene:
                  IL17RD (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  15.

                  rs1486881912 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    3:57098337 (GRCh38)
                    3:57132365 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:57098336:C:G,NC_000003.12:57098336:C:T
                    Gene:
                    IL17RD (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000028/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.57098337C>G, NC_000003.12:g.57098337C>T, NC_000003.11:g.57132365C>G, NC_000003.11:g.57132365C>T, NG_047158.1:g.76981G>C, NG_047158.1:g.76981G>A, NM_017563.5:c.1366G>C, NM_017563.5:c.1366G>A, NM_017563.4:c.1366G>C, NM_017563.4:c.1366G>A, NM_017563.3:c.1366G>C, NM_017563.3:c.1366G>A, NM_001318864.2:c.934G>C, NM_001318864.2:c.934G>A, NM_001318864.1:c.934G>C, NM_001318864.1:c.934G>A, NG_083009.1:g.1222C>G, NG_083009.1:g.1222C>T, XM_005265238.5:c.1282G>C, XM_005265238.5:c.1282G>A, XM_005265238.4:c.1282G>C, XM_005265238.4:c.1282G>A, XM_005265238.3:c.1282G>C, XM_005265238.3:c.1282G>A, XM_005265238.2:c.1282G>C, XM_005265238.2:c.1282G>A, XM_005265238.1:c.1282G>C, XM_005265238.1:c.1282G>A, XM_011533849.2:c.934G>C, XM_011533849.2:c.934G>A, XM_011533849.1:c.1294G>C, XM_011533849.1:c.1294G>A, XM_047448369.1:c.934G>C, XM_047448369.1:c.934G>A, NM_001080973.1:c.1366G>C, NM_001080973.1:c.1366G>A, NP_060033.3:p.Ala456Pro, NP_060033.3:p.Ala456Thr, NP_001305793.1:p.Ala312Pro, NP_001305793.1:p.Ala312Thr, XP_005265295.1:p.Ala428Pro, XP_005265295.1:p.Ala428Thr, XP_011532151.2:p.Ala312Pro, XP_011532151.2:p.Ala312Thr, XP_047304325.1:p.Ala312Pro, XP_047304325.1:p.Ala312Thr
                    18.

                    rs1486554015 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      3:57095674 (GRCh38)
                      3:57129702 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:57095673:C:A
                      Gene:
                      IL17RD (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      C=0.5/2 (SGDP_PRJ)
                      HGVS:
                      19.

                      rs1486153288 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:57095684 (GRCh38)
                        3:57129712 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:57095683:T:C
                        Gene:
                        IL17RD (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        20.

                        rs1486065545 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          3:57093604 (GRCh38)
                          3:57127632 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:57093603:T:A
                          Gene:
                          IL17RD (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:

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