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Links from Gene

Items: 1 to 20 of 7693

1.

rs1491556024 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    7:149840053 (GRCh38)
    7:149537143 (GRCh37)
    Canonical SPDI:
    NC_000007.14:149840053:A:AA
    Gene:
    ZNF862 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AA=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1491470357 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GT,GTGT [Show Flanks]
      Chromosome:
      7:149852335 (GRCh38)
      7:149549425 (GRCh37)
      Canonical SPDI:
      NC_000007.14:149852335:T:TGT,NC_000007.14:149852335:T:TGTGT
      Gene:
      ZNF862 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TGTGT=0./0 (ALFA)
      HGVS:
      3.

      rs1491379830 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AG>- [Show Flanks]
        Chromosome:
        7:149836401 (GRCh38)
        7:149533490 (GRCh37)
        Canonical SPDI:
        NC_000007.14:149836400:AG:
        Gene:
        ZNF862 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000084/1 (ALFA)
        -=0.000015/2 (GnomAD)
        -=0.000468/3 (1000Genomes)
        -=0.000495/8 (TOMMO)
        -=0.000546/1 (Korea1K)
        HGVS:
        4.

        rs1491341029 has merged into rs796413969 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
          Chromosome:
          7:149852385 (GRCh38)
          7:149549474 (GRCh37)
          Canonical SPDI:
          NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000007.14:149852372:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA
          Gene:
          ZNF862 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GAGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
          -=0.30043/1114 (TWINSUK)
          -=0.32641/1258 (ALSPAC)
          HGVS:
          5.

          rs1491340768 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            7:149836494 (GRCh38)
            7:149533583 (GRCh37)
            Canonical SPDI:
            NC_000007.14:149836493:CA:
            Gene:
            ZNF862 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00051/6 (ALFA)
            HGVS:
            6.

            rs1491183940 has merged into rs36025495 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              7:149836505 (GRCh38)
              7:149533594 (GRCh37)
              Canonical SPDI:
              NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:149836494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              ZNF862 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAA=0./0 (ALFA)
              -=0.494/256 (NorthernSweden)
              HGVS:
              NC_000007.14:g.149836505_149836516del, NC_000007.14:g.149836508_149836516del, NC_000007.14:g.149836510_149836516del, NC_000007.14:g.149836511_149836516del, NC_000007.14:g.149836512_149836516del, NC_000007.14:g.149836513_149836516del, NC_000007.14:g.149836514_149836516del, NC_000007.14:g.149836515_149836516del, NC_000007.14:g.149836516del, NC_000007.14:g.149836516dup, NC_000007.14:g.149836515_149836516dup, NC_000007.14:g.149836514_149836516dup, NC_000007.14:g.149836513_149836516dup, NC_000007.14:g.149836512_149836516dup, NC_000007.14:g.149836511_149836516dup, NC_000007.14:g.149836510_149836516dup, NC_000007.14:g.149836509_149836516dup, NC_000007.14:g.149836508_149836516dup, NC_000007.14:g.149836500_149836516dup, NC_000007.13:g.149533594_149533605del, NC_000007.13:g.149533597_149533605del, NC_000007.13:g.149533599_149533605del, NC_000007.13:g.149533600_149533605del, NC_000007.13:g.149533601_149533605del, NC_000007.13:g.149533602_149533605del, NC_000007.13:g.149533603_149533605del, NC_000007.13:g.149533604_149533605del, NC_000007.13:g.149533605del, NC_000007.13:g.149533605dup, NC_000007.13:g.149533604_149533605dup, NC_000007.13:g.149533603_149533605dup, NC_000007.13:g.149533602_149533605dup, NC_000007.13:g.149533601_149533605dup, NC_000007.13:g.149533600_149533605dup, NC_000007.13:g.149533599_149533605dup, NC_000007.13:g.149533598_149533605dup, NC_000007.13:g.149533597_149533605dup, NC_000007.13:g.149533589_149533605dup, NG_051961.1:g.2540_2551del, NG_051961.1:g.2543_2551del, NG_051961.1:g.2545_2551del, NG_051961.1:g.2546_2551del, NG_051961.1:g.2547_2551del, NG_051961.1:g.2548_2551del, NG_051961.1:g.2549_2551del, NG_051961.1:g.2550_2551del, NG_051961.1:g.2551del, NG_051961.1:g.2551dup, NG_051961.1:g.2550_2551dup, NG_051961.1:g.2549_2551dup, NG_051961.1:g.2548_2551dup, NG_051961.1:g.2547_2551dup, NG_051961.1:g.2546_2551dup, NG_051961.1:g.2545_2551dup, NG_051961.1:g.2544_2551dup, NG_051961.1:g.2543_2551dup, NG_051961.1:g.2535_2551dup
              7.

              rs1491177410 has merged into rs34196240 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
                Chromosome:
                7:149846140 (GRCh38)
                7:149543229 (GRCh37)
                Canonical SPDI:
                NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:149846130:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
                Gene:
                ZNF862 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTT=0.00165/36 (ALFA)
                T=0.08833/53 (NorthernSweden)
                HGVS:
                NC_000007.14:g.149846140_149846142del, NC_000007.14:g.149846141_149846142del, NC_000007.14:g.149846142del, NC_000007.14:g.149846142dup, NC_000007.14:g.149846141_149846142dup, NC_000007.14:g.149846140_149846142dup, NC_000007.14:g.149846139_149846142dup, NC_000007.14:g.149846134_149846142dup, NC_000007.13:g.149543229_149543231del, NC_000007.13:g.149543230_149543231del, NC_000007.13:g.149543231del, NC_000007.13:g.149543231dup, NC_000007.13:g.149543230_149543231dup, NC_000007.13:g.149543229_149543231dup, NC_000007.13:g.149543228_149543231dup, NC_000007.13:g.149543223_149543231dup, NG_051961.1:g.12175_12177del, NG_051961.1:g.12176_12177del, NG_051961.1:g.12177del, NG_051961.1:g.12177dup, NG_051961.1:g.12176_12177dup, NG_051961.1:g.12175_12177dup, NG_051961.1:g.12174_12177dup, NG_051961.1:g.12169_12177dup
                8.

                rs1491150635 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  7:149836401 (GRCh38)
                  7:149533491 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:149836401:GGGG:GGGGG
                  Gene:
                  ZNF862 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GGGGG=0.000071/1 (ALFA)
                  G=0.000014/2 (GnomAD)
                  G=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1491122072 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AC>- [Show Flanks]
                    Chromosome:
                    7:149840054 (GRCh38)
                    7:149537143 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:149840052:CAC:C
                    Gene:
                    ZNF862 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    -=0.000034/9 (TOPMED)
                    -=0.000036/5 (GnomAD)
                    HGVS:
                    10.

                    rs1490965189 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:149839196 (GRCh38)
                      7:149536285 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:149839195:G:A
                      Gene:
                      ZNF862 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490954184 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        7:149838404 (GRCh38)
                        7:149535493 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:149838403:A:C
                        Gene:
                        ZNF862 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1490865097 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:149853666 (GRCh38)
                          7:149550755 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:149853665:G:A
                          Gene:
                          ZNF862 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1490849090 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:149867554 (GRCh38)
                            7:149564643 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:149867553:C:T
                            Gene:
                            ATP6V0E2-AS1 (Varview), ZNF862 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000014/2 (GnomAD)
                            T=0.000038/10 (TOPMED)
                            HGVS:
                            14.

                            rs1490635419 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              T>- [Show Flanks]
                              Chromosome:
                              7:149842118 (GRCh38)
                              7:149539207 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:149842117:TT:T
                              Gene:
                              ZNF862 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TT=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1490580631 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                7:149845618 (GRCh38)
                                7:149542707 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:149845617:A:
                                Gene:
                                ZNF862 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000038/10 (TOPMED)
                                -=0.000043/6 (GnomAD)
                                HGVS:
                                17.

                                rs1490562034 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  7:149860060 (GRCh38)
                                  7:149557149 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:149860059:C:T
                                  Gene:
                                  ZNF862 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1490533792 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:149844529 (GRCh38)
                                    7:149541618 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:149844528:C:T
                                    Gene:
                                    ZNF862 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000546/1 (Korea1K)
                                    HGVS:
                                    19.

                                    rs1490370624 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      7:149853182 (GRCh38)
                                      7:149550271 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:149853181:G:A,NC_000007.14:149853181:G:C
                                      Gene:
                                      ZNF862 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000015/4 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1490252053 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        7:149846588 (GRCh38)
                                        7:149543677 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:149846587:A:T
                                        Gene:
                                        ZNF862 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000016/2 (GnomAD)
                                        HGVS:

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