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Links from Gene

Items: 1 to 20 of 13214

1.

rs1491468267 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CCCTCT [Show Flanks]
    Chromosome:
    1:233339334 (GRCh38)
    1:233475081 (GRCh37)
    Canonical SPDI:
    NC_000001.11:233339334:TCT:TCTCCCTCT
    Gene:
    MAP3K21 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TCTCCCTCT=0.00084/10 (ALFA)
    HGVS:
    2.

    rs1491376569 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TCT,TCTCCTCCTCCTTCT,TCTCCTCCTCCTTCTCCTCCTCCTTCT [Show Flanks]
      Chromosome:
      1:233339407 (GRCh38)
      1:233475154 (GRCh37)
      Canonical SPDI:
      NC_000001.11:233339407:CT:CTTCT,NC_000001.11:233339407:CT:CTTCTCCTCCTCCTTCT,NC_000001.11:233339407:CT:CTTCTCCTCCTCCTTCTCCTCCTCCTTCT
      Gene:
      MAP3K21 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTTCT=0.02116/251 (ALFA)
      CTT=0.05688/893 (TOMMO)
      HGVS:
      3.

      rs1491373139 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->CC [Show Flanks]
        Chromosome:
        1:233339379 (GRCh38)
        1:233475126 (GRCh37)
        Canonical SPDI:
        NC_000001.11:233339379::CC
        Gene:
        MAP3K21 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency
        MAF:
        CC=0.00003/3 (GnomAD)
        HGVS:
        4.

        rs1491372631 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->TAAT [Show Flanks]
          Chromosome:
          1:233354792 (GRCh38)
          1:233490539 (GRCh37)
          Canonical SPDI:
          NC_000001.11:233354792::TAAT
          Gene:
          MAP3K21 (Varview)
          Functional Consequence:
          intron_variant
          HGVS:
          5.

          rs1491366024 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CC>- [Show Flanks]
            Chromosome:
            1:233339407 (GRCh38)
            1:233475153 (GRCh37)
            Canonical SPDI:
            NC_000001.11:233339406:CC:
            Gene:
            MAP3K21 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.00012/2 (TOMMO)
            -=0.00042/24 (GnomAD)
            HGVS:
            6.

            rs1491296377 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>AA,GG [Show Flanks]
              Chromosome:
              1:233363714 (GRCh38)
              1:233499460 (GRCh37)
              Canonical SPDI:
              NC_000001.11:233363713:G:AA,NC_000001.11:233363713:G:GG
              Gene:
              MAP3K21 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by cluster
              HGVS:
              7.

              rs1491294179 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TT>- [Show Flanks]
                Chromosome:
                1:233339379 (GRCh38)
                1:233475125 (GRCh37)
                Canonical SPDI:
                NC_000001.11:233339378:TT:
                Gene:
                MAP3K21 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.00324/278 (GnomAD)
                -=0.00382/60 (TOMMO)
                -=0.00841/15 (Korea1K)
                -=0.00842/5 (NorthernSweden)
                HGVS:
                8.

                rs1491288372 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  1:233371785 (GRCh38)
                  1:233507531 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:233371783:TAT:T
                  Gene:
                  MAP3K21 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  -=0.08333/309 (TWINSUK)
                  -=0.08459/326 (ALSPAC)
                  HGVS:
                  9.

                  rs1491278037 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CC>- [Show Flanks]
                    Chromosome:
                    1:233339383 (GRCh38)
                    1:233475129 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:233339382:CC:
                    Gene:
                    MAP3K21 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    -=0.000029/3 (GnomAD)
                    HGVS:
                    10.

                    rs1491261532 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TCT>-,TCTTCT [Show Flanks]
                      Chromosome:
                      1:233339389 (GRCh38)
                      1:233475135 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:233339383:CTTCTTCT:CTTCT,NC_000001.11:233339383:CTTCTTCT:CTTCTTCTTCT
                      Gene:
                      MAP3K21 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CTTCTTCTTCT=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491247108 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TT>- [Show Flanks]
                        Chromosome:
                        1:233339334 (GRCh38)
                        1:233475080 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:233339333:TT:
                        Gene:
                        MAP3K21 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.001205/145 (GnomAD)
                        -=0.006211/104 (TOMMO)
                        -=0.008734/16 (Korea1K)
                        HGVS:
                        12.

                        rs1491047712 has merged into rs35334557 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AA>-,A,AAA,AAAA [Show Flanks]
                          Chromosome:
                          1:233368667 (GRCh38)
                          1:233504413 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:233368656:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:233368656:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:233368656:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:233368656:AAAAAAAAAAAA:AAAAAAAAAAAAAA
                          Gene:
                          MAP3K21 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAAAA=0./0 (ALFA)
                          A=0.22125/1108 (1000Genomes)
                          A=0.27759/166 (NorthernSweden)
                          A=0.31292/1206 (ALSPAC)
                          A=0.32039/1188 (TWINSUK)
                          A=0.35/14 (GENOME_DK)
                          HGVS:
                          13.

                          rs1491037274 has merged into rs5781742 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            1:233367872 (GRCh38)
                            1:233503618 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233367859:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            MAP3K21 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAA=0./0 (ALFA)
                            A=0.475/2379 (1000Genomes)
                            HGVS:
                            14.

                            rs1491021223 has merged into rs10710526 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
                              Chromosome:
                              1:233351708 (GRCh38)
                              1:233487454 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:233351696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              MAP3K21 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAAAA=0./0 (ALFA)
                              A=0.02515/421 (TOMMO)
                              A=0.425/17 (GENOME_DK)
                              -=0.48183/2413 (1000Genomes)
                              -=0.49145/230 (NorthernSweden)
                              HGVS:
                              15.

                              rs1491013347 has merged into rs35461412 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                1:233369227 (GRCh38)
                                1:233504973 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233369220:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                MAP3K21 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAA=0./0 (ALFA)
                                AAAAAAAAAAAAAA=0./0 (GENOME_DK)
                                HGVS:
                                NC_000001.11:g.233369227_233369240del, NC_000001.11:g.233369230_233369240del, NC_000001.11:g.233369231_233369240del, NC_000001.11:g.233369232_233369240del, NC_000001.11:g.233369233_233369240del, NC_000001.11:g.233369234_233369240del, NC_000001.11:g.233369235_233369240del, NC_000001.11:g.233369236_233369240del, NC_000001.11:g.233369237_233369240del, NC_000001.11:g.233369238_233369240del, NC_000001.11:g.233369239_233369240del, NC_000001.11:g.233369240del, NC_000001.11:g.233369240dup, NC_000001.11:g.233369239_233369240dup, NC_000001.11:g.233369238_233369240dup, NC_000001.11:g.233369237_233369240dup, NC_000001.11:g.233369236_233369240dup, NC_000001.11:g.233369235_233369240dup, NC_000001.11:g.233369234_233369240dup, NC_000001.11:g.233369233_233369240dup, NC_000001.11:g.233369232_233369240dup, NC_000001.11:g.233369231_233369240dup, NC_000001.11:g.233369229_233369240dup, NC_000001.11:g.233369226_233369240dup, NC_000001.11:g.233369224_233369240dup, NC_000001.11:g.233369223_233369240dup, NC_000001.11:g.233369221_233369240dup, NC_000001.10:g.233504973_233504986del, NC_000001.10:g.233504976_233504986del, NC_000001.10:g.233504977_233504986del, NC_000001.10:g.233504978_233504986del, NC_000001.10:g.233504979_233504986del, NC_000001.10:g.233504980_233504986del, NC_000001.10:g.233504981_233504986del, NC_000001.10:g.233504982_233504986del, NC_000001.10:g.233504983_233504986del, NC_000001.10:g.233504984_233504986del, NC_000001.10:g.233504985_233504986del, NC_000001.10:g.233504986del, NC_000001.10:g.233504986dup, NC_000001.10:g.233504985_233504986dup, NC_000001.10:g.233504984_233504986dup, NC_000001.10:g.233504983_233504986dup, NC_000001.10:g.233504982_233504986dup, NC_000001.10:g.233504981_233504986dup, NC_000001.10:g.233504980_233504986dup, NC_000001.10:g.233504979_233504986dup, NC_000001.10:g.233504978_233504986dup, NC_000001.10:g.233504977_233504986dup, NC_000001.10:g.233504975_233504986dup, NC_000001.10:g.233504972_233504986dup, NC_000001.10:g.233504970_233504986dup, NC_000001.10:g.233504969_233504986dup, NC_000001.10:g.233504967_233504986dup
                                16.

                                rs1490944525 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  1:233339415 (GRCh38)
                                  1:233475161 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:233339414:T:A
                                  Gene:
                                  MAP3K21 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  HGVS:
                                  17.

                                  rs1490719218 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:233373282 (GRCh38)
                                    1:233509028 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:233373281:G:A
                                    Gene:
                                    MAP3K21 (Varview)
                                    Functional Consequence:
                                    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:
                                    18.

                                    rs1490713105 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:233358070 (GRCh38)
                                      1:233493816 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:233358069:T:C
                                      Gene:
                                      MAP3K21 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000014/2 (GnomAD)
                                      C=0.000023/6 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490711865 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:233378707 (GRCh38)
                                        1:233514453 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:233378706:T:C
                                        Gene:
                                        MAP3K21 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490709150 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:233372279 (GRCh38)
                                          1:233508025 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:233372278:C:T
                                          Gene:
                                          MAP3K21 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000019/5 (TOPMED)
                                          HGVS:

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