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Links from Nucleotide

Items: 1 to 20 of 206

1.

rs1487552376 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTCATATT>- [Show Flanks]
    Chromosome:
    10:43647923 (GRCh38)
    10:44143371 (GRCh37)
    Canonical SPDI:
    NC_000010.11:43647919:ATTGTCATATT:ATT
    Gene:
    ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATT=0./0 (ALFA)
    -=0.000053/14 (TOPMED)
    -=0.000057/8 (GnomAD)
    HGVS:
    2.

    rs1486865232 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:43646169 (GRCh38)
      10:44141617 (GRCh37)
      Canonical SPDI:
      NC_000010.11:43646168:T:C
      Gene:
      ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1482288724 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        10:43647205 (GRCh38)
        10:44142653 (GRCh37)
        Canonical SPDI:
        NC_000010.11:43647204:T:C
        Gene:
        ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
        Functional Consequence:
        intron_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:
        4.

        rs1477578667 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:43647714 (GRCh38)
          10:44143162 (GRCh37)
          Canonical SPDI:
          NC_000010.11:43647713:G:A
          Gene:
          ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1473495668 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TAG>- [Show Flanks]
            Chromosome:
            10:43647827 (GRCh38)
            10:44143275 (GRCh37)
            Canonical SPDI:
            NC_000010.11:43647824:AGTAG:AG
            Gene:
            ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AG=0./0 (ALFA)
            -=0.000036/5 (GnomAD)
            -=0.000053/14 (TOPMED)
            HGVS:
            6.

            rs1469613630 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:43647988 (GRCh38)
              10:44143436 (GRCh37)
              Canonical SPDI:
              NC_000010.11:43647987:C:T
              Gene:
              ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1469297965 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                10:43646018 (GRCh38)
                10:44141466 (GRCh37)
                Canonical SPDI:
                NC_000010.11:43646017:A:C
                Gene:
                ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1468277484 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  10:43646109 (GRCh38)
                  10:44141557 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:43646108:G:T
                  Gene:
                  ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1465697489 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    10:43648018 (GRCh38)
                    10:44143466 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:43648017:T:G
                    Gene:
                    ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1452692521 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:43647724 (GRCh38)
                      10:44143172 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:43647723:G:T
                      Gene:
                      ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.00004/1 (TOMMO)
                      T=0.00137/4 (KOREAN)
                      T=0.00328/6 (Korea1K)
                      HGVS:
                      11.

                      rs1450356275 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:43646093 (GRCh38)
                        10:44141541 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:43646092:C:T
                        Gene:
                        ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_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:
                        12.

                        rs1449636522 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:43647644 (GRCh38)
                          10:44143092 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:43647643:G:A
                          Gene:
                          ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1448870130 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:43647804 (GRCh38)
                            10:44143252 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:43647803:G:A
                            Gene:
                            ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1441022772 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              10:43646023 (GRCh38)
                              10:44141471 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:43646022:C:A,NC_000010.11:43646022:C:T
                              Gene:
                              ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1440255050 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                10:43646157 (GRCh38)
                                10:44141605 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:43646156:G:C
                                Gene:
                                ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1438299381 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  10:43648008 (GRCh38)
                                  10:44143457 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:43648008:TTTT:TTTTT
                                  Gene:
                                  ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TTTTT=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1437720476 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:43647745 (GRCh38)
                                    10:44143193 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:43647744:C:T
                                    Gene:
                                    ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1436858293 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:43645992 (GRCh38)
                                      10:44141440 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:43645991:G:A
                                      Gene:
                                      ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000142/2 (ALFA)
                                      A=0.000026/7 (TOPMED)
                                      A=0.00005/7 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1434520733 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:43647773 (GRCh38)
                                        10:44143221 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:43647772:T:C
                                        Gene:
                                        ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000224/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000223/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1433379874 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          10:43647871 (GRCh38)
                                          10:44143319 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:43647870:G:A,NC_000010.11:43647870:G:C
                                          Gene:
                                          ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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