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Links from Nucleotide

Items: 1 to 20 of 2536

1.

rs1490452778 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    A>- [Show Flanks]
    Chromosome:
    2:165595080 (GRCh38)
    2:166451590 (GRCh37)
    Canonical SPDI:
    NC_000002.12:165595079:AAA:AA
    Gene:
    CSRNP3 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490145348 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:165679315 (GRCh38)
      2:166535825 (GRCh37)
      Canonical SPDI:
      NC_000002.12:165679314:T:C
      Gene:
      CSRNP3 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000051/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1489427242 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TAAGTAT>- [Show Flanks]
        Chromosome:
        2:165683627 (GRCh38)
        2:166540137 (GRCh37)
        Canonical SPDI:
        NC_000002.12:165683623:TATTAAGTAT:TAT
        Gene:
        CSRNP3 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency
        MAF:
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489273456 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:165680955 (GRCh38)
          2:166537465 (GRCh37)
          Canonical SPDI:
          NC_000002.12:165680954:G:A
          Gene:
          CSRNP3 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1488963791 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:165681275 (GRCh38)
            2:166537785 (GRCh37)
            Canonical SPDI:
            NC_000002.12:165681274:A:G
            Gene:
            CSRNP3 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000054/1 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.000029/4 (GnomAD)
            G=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1488910759 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              2:165683928 (GRCh38)
              2:166540438 (GRCh37)
              Canonical SPDI:
              NC_000002.12:165683927:T:A
              Gene:
              CSRNP3 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.0002/1 (ALFA)
              A=0.0002/1 (Estonian)
              HGVS:
              7.

              rs1488765462 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:165682318 (GRCh38)
                2:166538828 (GRCh37)
                Canonical SPDI:
                NC_000002.12:165682317:T:C
                Gene:
                CSRNP3 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000019/5 (TOPMED)
                C=0.000342/1 (KOREAN)
                C=0.001092/2 (Korea1K)
                C=0.008529/143 (TOMMO)
                HGVS:
                8.

                rs1488683947 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:165682753 (GRCh38)
                  2:166539263 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:165682752:C:T
                  Gene:
                  CSRNP3 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488673003 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:165683640 (GRCh38)
                    2:166540150 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:165683639:T:C
                    Gene:
                    CSRNP3 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000014/2 (GnomAD)
                    C=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1488633265 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:165684064 (GRCh38)
                      2:166540574 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:165684063:G:A
                      Gene:
                      CSRNP3 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1488302663 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:165679671 (GRCh38)
                        2:166536181 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:165679670:A:G
                        Gene:
                        CSRNP3 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488242001 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:165680028 (GRCh38)
                          2:166536538 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:165680027:G:A
                          Gene:
                          CSRNP3 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488016582 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:165684676 (GRCh38)
                            2:166541186 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:165684675:C:T
                            Gene:
                            CSRNP3 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487981851 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              2:165685110 (GRCh38)
                              2:166541620 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:165685109:A:T
                              Gene:
                              CSRNP3 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487953645 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                2:165685624 (GRCh38)
                                2:166542134 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:165685623:T:G
                                Gene:
                                CSRNP3 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487793656 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:165687788 (GRCh38)
                                  2:166544298 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:165687787:C:T
                                  Gene:
                                  CSRNP3 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000142/2 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000029/4 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1486954742 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:165686344 (GRCh38)
                                    2:166542854 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:165686343:G:A
                                    Gene:
                                    CSRNP3 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1486839327 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      2:165680958 (GRCh38)
                                      2:166537468 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:165680957:C:G
                                      Gene:
                                      CSRNP3 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1486722361 has merged into rs372840967 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                                        Chromosome:
                                        2:165681817 (GRCh38)
                                        2:166538327 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:165681803:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                                        Gene:
                                        CSRNP3 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TGTGTGTGTGTGTGT=0./0 (ALFA)
                                        TG=0.025/1 (GENOME_DK)
                                        HGVS:
                                        NC_000002.12:g.165681805GT[6], NC_000002.12:g.165681805GT[7], NC_000002.12:g.165681805GT[8], NC_000002.12:g.165681805GT[9], NC_000002.12:g.165681805GT[10], NC_000002.12:g.165681805GT[11], NC_000002.12:g.165681805GT[12], NC_000002.12:g.165681805GT[14], NC_000002.12:g.165681805GT[15], NC_000002.12:g.165681805GT[16], NC_000002.12:g.165681805GT[17], NC_000002.11:g.166538315GT[6], NC_000002.11:g.166538315GT[7], NC_000002.11:g.166538315GT[8], NC_000002.11:g.166538315GT[9], NC_000002.11:g.166538315GT[10], NC_000002.11:g.166538315GT[11], NC_000002.11:g.166538315GT[12], NC_000002.11:g.166538315GT[14], NC_000002.11:g.166538315GT[15], NC_000002.11:g.166538315GT[16], NC_000002.11:g.166538315GT[17], XM_005246865.5:c.*2052GT[6], XM_005246865.5:c.*2052GT[7], XM_005246865.5:c.*2052GT[8], XM_005246865.5:c.*2052GT[9], XM_005246865.5:c.*2052GT[10], XM_005246865.5:c.*2052GT[11], XM_005246865.5:c.*2052GT[12], XM_005246865.5:c.*2052GT[14], XM_005246865.5:c.*2052GT[15], XM_005246865.5:c.*2052GT[16], XM_005246865.5:c.*2052GT[17], XM_005246865.4:c.*2052GT[6], XM_005246865.4:c.*2052GT[7], XM_005246865.4:c.*2052GT[8], XM_005246865.4:c.*2052GT[9], XM_005246865.4:c.*2052GT[10], XM_005246865.4:c.*2052GT[11], XM_005246865.4:c.*2052GT[12], XM_005246865.4:c.*2052GT[14], XM_005246865.4:c.*2052GT[15], XM_005246865.4:c.*2052GT[16], XM_005246865.4:c.*2052GT[17], NM_024969.3:c.*2052GT[6], NM_024969.3:c.*2052GT[7], NM_024969.3:c.*2052GT[8], NM_024969.3:c.*2052GT[9], NM_024969.3:c.*2052GT[10], NM_024969.3:c.*2052GT[11], NM_024969.3:c.*2052GT[12], NM_024969.3:c.*2052GT[14], NM_024969.3:c.*2052GT[15], NM_024969.3:c.*2052GT[16], NM_024969.3:c.*2052GT[17], XM_024453155.2:c.*2052GT[6], XM_024453155.2:c.*2052GT[7], XM_024453155.2:c.*2052GT[8], XM_024453155.2:c.*2052GT[9], XM_024453155.2:c.*2052GT[10], XM_024453155.2:c.*2052GT[11], XM_024453155.2:c.*2052GT[12], XM_024453155.2:c.*2052GT[14], XM_024453155.2:c.*2052GT[15], XM_024453155.2:c.*2052GT[16], XM_024453155.2:c.*2052GT[17], XM_024453155.1:c.*2052GT[6], XM_024453155.1:c.*2052GT[7], XM_024453155.1:c.*2052GT[8], XM_024453155.1:c.*2052GT[9], XM_024453155.1:c.*2052GT[10], XM_024453155.1:c.*2052GT[11], XM_024453155.1:c.*2052GT[12], XM_024453155.1:c.*2052GT[14], XM_024453155.1:c.*2052GT[15], XM_024453155.1:c.*2052GT[16], XM_024453155.1:c.*2052GT[17], NM_001172173.2:c.*2052GT[6], NM_001172173.2:c.*2052GT[7], NM_001172173.2:c.*2052GT[8], NM_001172173.2:c.*2052GT[9], NM_001172173.2:c.*2052GT[10], NM_001172173.2:c.*2052GT[11], NM_001172173.2:c.*2052GT[12], NM_001172173.2:c.*2052GT[14], NM_001172173.2:c.*2052GT[15], NM_001172173.2:c.*2052GT[16], NM_001172173.2:c.*2052GT[17], NM_001172173.1:c.*2052GT[6], NM_001172173.1:c.*2052GT[7], NM_001172173.1:c.*2052GT[8], NM_001172173.1:c.*2052GT[9], NM_001172173.1:c.*2052GT[10], NM_001172173.1:c.*2052GT[11], NM_001172173.1:c.*2052GT[12], NM_001172173.1:c.*2052GT[14], NM_001172173.1:c.*2052GT[15], NM_001172173.1:c.*2052GT[16], NM_001172173.1:c.*2052GT[17], XM_047445908.1:c.*2052GT[6], XM_047445908.1:c.*2052GT[7], XM_047445908.1:c.*2052GT[8], XM_047445908.1:c.*2052GT[9], XM_047445908.1:c.*2052GT[10], XM_047445908.1:c.*2052GT[11], XM_047445908.1:c.*2052GT[12], XM_047445908.1:c.*2052GT[14], XM_047445908.1:c.*2052GT[15], XM_047445908.1:c.*2052GT[16], XM_047445908.1:c.*2052GT[17], XM_047445907.1:c.*2052GT[6], XM_047445907.1:c.*2052GT[7], XM_047445907.1:c.*2052GT[8], XM_047445907.1:c.*2052GT[9], XM_047445907.1:c.*2052GT[10], XM_047445907.1:c.*2052GT[11], XM_047445907.1:c.*2052GT[12], XM_047445907.1:c.*2052GT[14], XM_047445907.1:c.*2052GT[15], XM_047445907.1:c.*2052GT[16], XM_047445907.1:c.*2052GT[17]

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