U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1000

1.

rs1491569868 has merged into rs869063151 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    2:71324719 (GRCh38)
    2:71551849 (GRCh37)
    Canonical SPDI:
    NC_000002.12:71324717:TCT:T
    Validated:
    by cluster
    HGVS:
    2.

    rs1491567378 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      2:71367738 (GRCh38)
      2:71594868 (GRCh37)
      Canonical SPDI:
      NC_000002.12:71367737:CT:
      Gene:
      ZNF638 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491533881 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        CT>-
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491528757 has merged into rs67392625 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTT>-,T,TT,TTTT [Show Flanks]
          Chromosome:
          2:71302975 (GRCh38)
          2:71530105 (GRCh37)
          Canonical SPDI:
          NC_000002.12:71302970:TTTTTTT:TTTT,NC_000002.12:71302970:TTTTTTT:TTTTT,NC_000002.12:71302970:TTTTTTT:TTTTTT,NC_000002.12:71302970:TTTTTTT:TTTTTTTT
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTT=0.00193/30 (ALFA)
          -=0.00671/29 (Estonian)
          -=0.275/11 (GENOME_DK)
          HGVS:
          5.

          rs1491527030 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TC>- [Show Flanks]
            Chromosome:
            2:71321665 (GRCh38)
            2:71548795 (GRCh37)
            Canonical SPDI:
            NC_000002.12:71321664:TC:
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491490575 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->AAT [Show Flanks]
              Chromosome:
              2:71377576 (GRCh38)
              2:71604707 (GRCh37)
              Canonical SPDI:
              NC_000002.12:71377576:AT:ATAAT
              Gene:
              ZNF638 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              ATAAT=0./0 (ALFA)
              ATA=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1491485648 has merged into rs1290412487 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTT>-,T,TTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                2:71300510 (GRCh38)
                2:71527640 (GRCh37)
                Canonical SPDI:
                NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71300498:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000002.12:g.71300510_71300520del, NC_000002.12:g.71300511_71300520del, NC_000002.12:g.71300513_71300520del, NC_000002.12:g.71300517_71300520del, NC_000002.12:g.71300519_71300520del, NC_000002.12:g.71300520del, NC_000002.12:g.71300520dup, NC_000002.12:g.71300519_71300520dup, NC_000002.12:g.71300518_71300520dup, NC_000002.12:g.71300517_71300520dup, NC_000002.12:g.71300516_71300520dup, NC_000002.12:g.71300515_71300520dup, NC_000002.12:g.71300514_71300520dup, NC_000002.12:g.71300513_71300520dup, NC_000002.12:g.71300512_71300520dup, NC_000002.12:g.71300511_71300520dup, NC_000002.12:g.71300504_71300520dup, NC_000002.12:g.71300500_71300520dup, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71300520_71300521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527640_71527650del, NC_000002.11:g.71527641_71527650del, NC_000002.11:g.71527643_71527650del, NC_000002.11:g.71527647_71527650del, NC_000002.11:g.71527649_71527650del, NC_000002.11:g.71527650del, NC_000002.11:g.71527650dup, NC_000002.11:g.71527649_71527650dup, NC_000002.11:g.71527648_71527650dup, NC_000002.11:g.71527647_71527650dup, NC_000002.11:g.71527646_71527650dup, NC_000002.11:g.71527645_71527650dup, NC_000002.11:g.71527644_71527650dup, NC_000002.11:g.71527643_71527650dup, NC_000002.11:g.71527642_71527650dup, NC_000002.11:g.71527641_71527650dup, NC_000002.11:g.71527634_71527650dup, NC_000002.11:g.71527630_71527650dup, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71527650_71527651insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                8.

                rs1491474933 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->TTTA,TTTTA,TTTTC [Show Flanks]
                  Chromosome:
                  2:71383781 (GRCh38)
                  2:71610912 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:71383781::TTTA,NC_000002.12:71383781::TTTTA,NC_000002.12:71383781::TTTTC
                  Gene:
                  ZNF638 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491447941 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    2:71303304 (GRCh38)
                    2:71530435 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:71303304:C:CC
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CC=0./0 (ALFA)
                    C=0.000478/64 (GnomAD)
                    HGVS:
                    10.

                    rs1491436411 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TA>- [Show Flanks]
                      Chromosome:
                      2:71367751 (GRCh38)
                      2:71594881 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:71367750:TA:
                      Gene:
                      ZNF638 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000015/4 (TOPMED)
                      -=0.000109/12 (GnomAD)
                      HGVS:
                      11.

                      rs1491428997 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CTT [Show Flanks]
                        Chromosome:
                        2:71383763 (GRCh38)
                        2:71610894 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:71383763:TT:TTCTT
                        Gene:
                        ZNF638 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTCTT=0.00008/1 (ALFA)
                        TTC=0.00096/3 (GnomAD)
                        HGVS:
                        12.

                        rs1491428356 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          2:71411488 (GRCh38)
                          2:71638618 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:71411486:TAT:T
                          Gene:
                          ZNF638 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          -=0.000008/1 (GnomAD)
                          -=0.000045/1 (TOMMO)
                          HGVS:
                          13.

                          rs1491398243 has merged into rs972567815 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
                            Chromosome:
                            2:71356801 (GRCh38)
                            2:71583931 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:71356794:TTTTTTTTTTTT:TTTTTTTTTTTTTT
                            Gene:
                            ZNF638 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTT=0./0 (ALFA)
                            -=0.00218/4 (Korea1K)
                            HGVS:
                            14.

                            rs1491339615 has merged into rs58219651 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              2:71386302 (GRCh38)
                              2:71613432 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71386293:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              ZNF638 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAA=0./0 (ALFA)
                              -=0.4754/2381 (1000Genomes)
                              HGVS:
                              NC_000002.12:g.71386302_71386317del, NC_000002.12:g.71386304_71386317del, NC_000002.12:g.71386305_71386317del, NC_000002.12:g.71386306_71386317del, NC_000002.12:g.71386307_71386317del, NC_000002.12:g.71386308_71386317del, NC_000002.12:g.71386309_71386317del, NC_000002.12:g.71386310_71386317del, NC_000002.12:g.71386311_71386317del, NC_000002.12:g.71386312_71386317del, NC_000002.12:g.71386313_71386317del, NC_000002.12:g.71386314_71386317del, NC_000002.12:g.71386315_71386317del, NC_000002.12:g.71386316_71386317del, NC_000002.12:g.71386317del, NC_000002.12:g.71386317dup, NC_000002.12:g.71386316_71386317dup, NC_000002.12:g.71386312_71386317dup, NC_000002.12:g.71386311_71386317dup, NC_000002.12:g.71386317_71386318insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.71613432_71613447del, NC_000002.11:g.71613434_71613447del, NC_000002.11:g.71613435_71613447del, NC_000002.11:g.71613436_71613447del, NC_000002.11:g.71613437_71613447del, NC_000002.11:g.71613438_71613447del, NC_000002.11:g.71613439_71613447del, NC_000002.11:g.71613440_71613447del, NC_000002.11:g.71613441_71613447del, NC_000002.11:g.71613442_71613447del, NC_000002.11:g.71613443_71613447del, NC_000002.11:g.71613444_71613447del, NC_000002.11:g.71613445_71613447del, NC_000002.11:g.71613446_71613447del, NC_000002.11:g.71613447del, NC_000002.11:g.71613447dup, NC_000002.11:g.71613446_71613447dup, NC_000002.11:g.71613442_71613447dup, NC_000002.11:g.71613441_71613447dup, NC_000002.11:g.71613447_71613448insAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              15.

                              rs1491303807 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                2:71321665 (GRCh38)
                                2:71548796 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:71321665:C:CC
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000035/1 (TOMMO)
                                HGVS:
                                16.

                                rs1491269555 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  CT>-
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1491264829 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AT>- [Show Flanks]
                                    Chromosome:
                                    2:71377577 (GRCh38)
                                    2:71604707 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:71377575:TAT:T
                                    Gene:
                                    ZNF638 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000142/2 (ALFA)
                                    -=0.000107/15 (GnomAD)
                                    -=0.00017/45 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1491258275 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      2:71386293 (GRCh38)
                                      2:71613423 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:71386292:CA:
                                      Gene:
                                      ZNF638 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0.00169/20 (ALFA)
                                      -=0.00011/3 (TOMMO)
                                      -=0.00174/3 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1491257051 has merged into rs70959225 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGAAGTTTTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        2:71286153 (GRCh38)
                                        2:71513283 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGTTTTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71286143:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTTTTT=0./0 (ALFA)
                                        -=0.2686/1345 (1000Genomes)
                                        HGVS:
                                        NC_000002.12:g.71286153_71286159del, NC_000002.12:g.71286154_71286159del, NC_000002.12:g.71286155_71286159del, NC_000002.12:g.71286156_71286159del, NC_000002.12:g.71286157_71286159del, NC_000002.12:g.71286158_71286159del, NC_000002.12:g.71286159del, NC_000002.12:g.71286159dup, NC_000002.12:g.71286158_71286159dup, NC_000002.12:g.71286157_71286159dup, NC_000002.12:g.71286156_71286159dup, NC_000002.12:g.71286155_71286159dup, NC_000002.12:g.71286154_71286159dup, NC_000002.12:g.71286153_71286159dup, NC_000002.12:g.71286152_71286159dup, NC_000002.12:g.71286151_71286159dup, NC_000002.12:g.71286150_71286159dup, NC_000002.12:g.71286149_71286159dup, NC_000002.12:g.71286148_71286159dup, NC_000002.12:g.71286144_71286159T[28]GAAGTTTTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.71286147_71286159dup, NC_000002.12:g.71286146_71286159dup, NC_000002.12:g.71286145_71286159dup, NC_000002.12:g.71286144_71286159dup, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286144_71286159T[38]GTTTT[2]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286144_71286159T[41]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286159_71286160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.71286144_71286159T[62]GTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.71513283_71513289del, NC_000002.11:g.71513284_71513289del, NC_000002.11:g.71513285_71513289del, NC_000002.11:g.71513286_71513289del, NC_000002.11:g.71513287_71513289del, NC_000002.11:g.71513288_71513289del, NC_000002.11:g.71513289del, NC_000002.11:g.71513289dup, NC_000002.11:g.71513288_71513289dup, NC_000002.11:g.71513287_71513289dup, NC_000002.11:g.71513286_71513289dup, NC_000002.11:g.71513285_71513289dup, NC_000002.11:g.71513284_71513289dup, NC_000002.11:g.71513283_71513289dup, NC_000002.11:g.71513282_71513289dup, NC_000002.11:g.71513281_71513289dup, NC_000002.11:g.71513280_71513289dup, NC_000002.11:g.71513279_71513289dup, NC_000002.11:g.71513278_71513289dup, NC_000002.11:g.71513274_71513289T[28]GAAGTTTTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.71513277_71513289dup, NC_000002.11:g.71513276_71513289dup, NC_000002.11:g.71513275_71513289dup, NC_000002.11:g.71513274_71513289dup, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513274_71513289T[38]GTTTT[2]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513274_71513289T[41]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513289_71513290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71513274_71513289T[62]GTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
                                        20.

                                        rs1491255147 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->GGG
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...