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Links from Nucleotide

Items: 1 to 20 of 331

1.

rs1489014527 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:56494855 (GRCh38)
    19:57006224 (GRCh37)
    Canonical SPDI:
    NC_000019.10:56494854:T:C
    Gene:
    ZNF667-AS1 (Varview), LOC124904776 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000014/2 (GnomAD)
    C=0.00003/8 (TOPMED)
    HGVS:
    2.

    rs1487805143 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:56478137 (GRCh38)
      19:56989506 (GRCh37)
      Canonical SPDI:
      NC_000019.10:56478136:T:C
      Gene:
      ZNF667 (Varview), ZNF667-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1487326974 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        19:56494343 (GRCh38)
        19:57005712 (GRCh37)
        Canonical SPDI:
        NC_000019.10:56494341:TGT:T
        Gene:
        ZNF667-AS1 (Varview), LOC124904776 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1486059907 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          19:56495313 (GRCh38)
          19:57006683 (GRCh37)
          Canonical SPDI:
          NC_000019.10:56495313:AA:AAA
          Gene:
          ZNF667-AS1 (Varview), LOC124904776 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAA=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          A=0.000036/5 (GnomAD)
          HGVS:
          5.

          rs1484352885 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:56495005 (GRCh38)
            19:57006374 (GRCh37)
            Canonical SPDI:
            NC_000019.10:56495004:G:A
            Gene:
            ZNF667-AS1 (Varview), LOC124904776 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1484218153 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AATGCCTCAAGATTT>- [Show Flanks]
              Chromosome:
              19:56495137 (GRCh38)
              19:57006506 (GRCh37)
              Canonical SPDI:
              NC_000019.10:56495136:AATGCCTCAAGATTT:
              Gene:
              ZNF667-AS1 (Varview), LOC124904776 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              -=0.000007/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1483405210 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:56494577 (GRCh38)
                19:57005946 (GRCh37)
                Canonical SPDI:
                NC_000019.10:56494576:C:T
                Gene:
                ZNF667-AS1 (Varview), LOC124904776 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1483369832 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:56494507 (GRCh38)
                  19:57005876 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:56494506:T:C
                  Gene:
                  ZNF667-AS1 (Varview), LOC124904776 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1476927721 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->CAACACGTGTTGTGTTCAACATGTGTTC [Show Flanks]
                    Chromosome:
                    19:56494583 (GRCh38)
                    19:57005953 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:56494583::CAACACGTGTTGTGTTCAACATGTGTTC
                    Gene:
                    ZNF667-AS1 (Varview), LOC124904776 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CAACACGTGTTGTGTTCAACATGTGTTC=0./0 (ALFA)
                    CAACACGTGTTGTGTTCAACATGTGTTC=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1472068872 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:56495224 (GRCh38)
                      19:57006593 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:56495223:C:T
                      Gene:
                      ZNF667-AS1 (Varview), LOC124904776 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000026/7 (TOPMED)
                      HGVS:
                      11.

                      rs1468243422 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:56494836 (GRCh38)
                        19:57006205 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:56494835:A:G
                        Gene:
                        ZNF667-AS1 (Varview), LOC124904776 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        A=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1465302944 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:56494230 (GRCh38)
                          19:57005599 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:56494229:G:A
                          Gene:
                          ZNF667-AS1 (Varview), LOC124904776 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          HGVS:
                          13.

                          rs1464084118 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            19:56494378 (GRCh38)
                            19:57005747 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:56494377:C:A
                            Gene:
                            ZNF667-AS1 (Varview), LOC124904776 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.00003/4 (GnomAD_exomes)
                            A=0.000743/12 (TOMMO)
                            A=0.001711/5 (KOREAN)
                            HGVS:
                            14.

                            rs1464053976 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:56494536 (GRCh38)
                              19:57005905 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:56494535:T:C
                              Gene:
                              ZNF667-AS1 (Varview), LOC124904776 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000021/3 (GnomAD)
                              C=0.000023/6 (TOPMED)
                              HGVS:
                              15.

                              rs1463601809 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:56494718 (GRCh38)
                                19:57006087 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:56494717:C:T
                                Gene:
                                ZNF667-AS1 (Varview), LOC124904776 (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:
                                16.

                                rs1463549879 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  19:56478175 (GRCh38)
                                  19:56989544 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:56478174:G:C
                                  Gene:
                                  ZNF667 (Varview), ZNF667-AS1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1462628550 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    19:56495093 (GRCh38)
                                    19:57006462 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:56495092:A:T
                                    Gene:
                                    ZNF667-AS1 (Varview), LOC124904776 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1459343088 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:56494294 (GRCh38)
                                      19:57005663 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:56494293:C:T
                                      Gene:
                                      ZNF667-AS1 (Varview), LOC124904776 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000094/1 (ALFA)
                                      T=0.000007/1 (GnomAD_exomes)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1458429493 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:56495057 (GRCh38)
                                        19:57006426 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:56495056:T:C
                                        Gene:
                                        ZNF667-AS1 (Varview), LOC124904776 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD_exomes)
                                        C=0.000021/3 (GnomAD)
                                        C=0.000026/7 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1457523445 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C,G [Show Flanks]
                                          Chromosome:
                                          19:56494686 (GRCh38)
                                          19:57006055 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:56494685:T:A,NC_000019.10:56494685:T:C,NC_000019.10:56494685:T:G
                                          Gene:
                                          ZNF667-AS1 (Varview), LOC124904776 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          G=0.00004/1 (TOMMO)
                                          HGVS:

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