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Links from Gene

Items: 1 to 20 of 3217

1.

rs1491544281 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    16:3133770 (GRCh38)
    16:3183771 (GRCh37)
    Canonical SPDI:
    NC_000016.10:3133764:ATATATA:ATATA
    Gene:
    ZNF213 (Varview), ZNF213-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    ATATA=0./0 (ALFA)
    -=0.000008/1 (GnomAD)
    HGVS:
    2.

    rs1491482046 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      16:3133079 (GRCh38)
      16:3183080 (GRCh37)
      Canonical SPDI:
      NC_000016.10:3133078:CA:
      Gene:
      ZNF213 (Varview), ZNF213-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491367616 has merged into rs1193920893 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        16:3133728 (GRCh38)
        16:3183729 (GRCh37)
        Canonical SPDI:
        NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        ZNF213 (Varview), ZNF213-AS1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000016.10:g.3133728_3133731del, NC_000016.10:g.3133729_3133731del, NC_000016.10:g.3133730_3133731del, NC_000016.10:g.3133731del, NC_000016.10:g.3133731dup, NC_000016.10:g.3133730_3133731dup, NC_000016.10:g.3133729_3133731dup, NC_000016.10:g.3133728_3133731dup, NC_000016.10:g.3133727_3133731dup, NC_000016.10:g.3133726_3133731dup, NC_000016.10:g.3133725_3133731dup, NC_000016.10:g.3133724_3133731dup, NC_000016.10:g.3133723_3133731dup, NC_000016.10:g.3133722_3133731dup, NC_000016.10:g.3133721_3133731dup, NC_000016.10:g.3133720_3133731dup, NC_000016.10:g.3133719_3133731dup, NC_000016.10:g.3133717_3133731dup, NC_000016.9:g.3183729_3183732del, NC_000016.9:g.3183730_3183732del, NC_000016.9:g.3183731_3183732del, NC_000016.9:g.3183732del, NC_000016.9:g.3183732dup, NC_000016.9:g.3183731_3183732dup, NC_000016.9:g.3183730_3183732dup, NC_000016.9:g.3183729_3183732dup, NC_000016.9:g.3183728_3183732dup, NC_000016.9:g.3183727_3183732dup, NC_000016.9:g.3183726_3183732dup, NC_000016.9:g.3183725_3183732dup, NC_000016.9:g.3183724_3183732dup, NC_000016.9:g.3183723_3183732dup, NC_000016.9:g.3183722_3183732dup, NC_000016.9:g.3183721_3183732dup, NC_000016.9:g.3183720_3183732dup, NC_000016.9:g.3183718_3183732dup
        4.

        rs1491221575 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          16:3133716 (GRCh38)
          16:3183718 (GRCh37)
          Canonical SPDI:
          NC_000016.10:3133716::C
          Gene:
          ZNF213 (Varview), ZNF213-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          HGVS:
          5.

          rs1490934870 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:3128613 (GRCh38)
            16:3178614 (GRCh37)
            Canonical SPDI:
            NC_000016.10:3128612:C:T
            Gene:
            ZNF213-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.007187/21 (KOREAN)
            C=0.5/1 (SGDP_PRJ)
            HGVS:
            6.

            rs1490913094 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              16:3129014 (GRCh38)
              16:3179015 (GRCh37)
              Canonical SPDI:
              NC_000016.10:3129013:T:A,NC_000016.10:3129013:T:C
              Gene:
              ZNF213-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.00003/8 (TOPMED)
              HGVS:
              7.

              rs1490229639 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:3127648 (GRCh38)
                16:3177649 (GRCh37)
                Canonical SPDI:
                NC_000016.10:3127647:A:G
                Gene:
                ZNF213-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490039962 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  16:3133322 (GRCh38)
                  16:3183323 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:3133321:A:G
                  Gene:
                  ZNF213 (Varview), ZNF213-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000546/1 (Korea1K)
                  HGVS:
                  9.

                  rs1489921148 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    16:3134298 (GRCh38)
                    16:3184299 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:3134297:G:A,NC_000016.10:3134297:G:T
                    Gene:
                    ZNF213 (Varview), ZNF213-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489876075 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      16:3133693 (GRCh38)
                      16:3183695 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:3133693:T:TT
                      Gene:
                      ZNF213 (Varview), ZNF213-AS1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TT=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1489847879 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:3128436 (GRCh38)
                        16:3178437 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:3128435:T:C
                        Gene:
                        ZNF213-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1489741314 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          16:3128008 (GRCh38)
                          16:3178009 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:3128007:T:A
                          Gene:
                          ZNF213-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000023/6 (TOPMED)
                          A=0.00005/7 (GnomAD)
                          HGVS:
                          13.

                          rs1489651175 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:3125881 (GRCh38)
                            16:3175882 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:3125880:C:T
                            Gene:
                            ZNF213-AS1 (Varview)
                            Functional Consequence:
                            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:
                            14.

                            rs1489584012 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              16:3131568 (GRCh38)
                              16:3181569 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:3131567:G:C
                              Gene:
                              ZNF213-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000022/3 (GnomAD)
                              HGVS:
                              15.

                              rs1489319643 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                16:3134997 (GRCh38)
                                16:3184998 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:3134996:C:G
                                Gene:
                                ZNF213 (Varview), ZNF213-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1489271515 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  16:3127145 (GRCh38)
                                  16:3177146 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:3127144:G:C
                                  Gene:
                                  ZNF213-AS1 (Varview)
                                  Functional Consequence:
                                  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:
                                  17.

                                  rs1489163816 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    16:3132100 (GRCh38)
                                    16:3182101 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:3132099:C:A
                                    Gene:
                                    ZNF213-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489104200 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      16:3135151 (GRCh38)
                                      16:3185152 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:3135150:C:G
                                      Gene:
                                      ZNF213 (Varview), ZNF213-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489032026 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        16:3135123 (GRCh38)
                                        16:3185124 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:3135122:C:A,NC_000016.10:3135122:C:G
                                        Gene:
                                        ZNF213 (Varview), ZNF213-AS1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488551022 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:3130507 (GRCh38)
                                          16:3180508 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:3130506:G:A
                                          Gene:
                                          ZNF213-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.00003/8 (TOPMED)
                                          HGVS:

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