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Links from Gene

Items: 1 to 20 of 9812

1.

rs1491583968 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    16:4452109 (GRCh38)
    16:4502110 (GRCh37)
    Canonical SPDI:
    NC_000016.10:4452107:TGT:T
    Gene:
    DNAJA3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1491569224 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->G
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491561083 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        16:4445926 (GRCh38)
        16:4495927 (GRCh37)
        Canonical SPDI:
        NC_000016.10:4445924:TCT:T
        Gene:
        DNAJA3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000084/1 (ALFA)
        -=0.00013/18 (GnomAD)
        -=0.000283/5 (TOMMO)
        HGVS:
        4.

        rs1491223922 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TAG [Show Flanks]
          Chromosome:
          16:4452108 (GRCh38)
          16:4502110 (GRCh37)
          Canonical SPDI:
          NC_000016.10:4452108:GTAG:GTAGTAG
          Gene:
          DNAJA3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTAGTAG=0./0 (ALFA)
          GTA=0.000019/5 (TOPMED)
          GTA=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1491103464 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            16:4444333 (GRCh38)
            16:4494335 (GRCh37)
            Canonical SPDI:
            NC_000016.10:4444333:C:CC
            Gene:
            DNAJA3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491067814 has merged into rs368431722 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
              Chromosome:
              16:4451906 (GRCh38)
              16:4501907 (GRCh37)
              Canonical SPDI:
              NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
              Gene:
              DNAJA3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAA=0./0 (ALFA)
              A=0.277/164 (NorthernSweden)
              A=0.325/13 (GENOME_DK)
              A=0.4778/2393 (1000Genomes)
              HGVS:
              7.

              rs1490997137 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:4451898 (GRCh38)
                16:4501899 (GRCh37)
                Canonical SPDI:
                NC_000016.10:4451897:A:G
                Gene:
                DNAJA3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.00008/2 (GnomAD)
                HGVS:
                8.

                rs1490786290 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:4444585 (GRCh38)
                  16:4494586 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:4444584:C:T
                  Gene:
                  DNAJA3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000021/3 (GnomAD)
                  T=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1490602057 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:4447435 (GRCh38)
                    16:4497436 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:4447434:C:T
                    Gene:
                    DNAJA3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490550925 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      16:4446566 (GRCh38)
                      16:4496567 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:4446565:A:C
                      Gene:
                      DNAJA3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490496954 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TGG>- [Show Flanks]
                        Chromosome:
                        16:4430428 (GRCh38)
                        16:4480429 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:4430423:GTGGTGG:GTGG
                        Gene:
                        DNAJA3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GTGG=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490491480 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          16:4432120 (GRCh38)
                          16:4482121 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:4432119:T:C
                          Gene:
                          DNAJA3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.0002/1 (ALFA)
                          C=0.0002/1 (Estonian)
                          HGVS:
                          13.

                          rs1490458452 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            16:4439018 (GRCh38)
                            16:4489019 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:4439017:G:C,NC_000016.10:4439017:G:T
                            Gene:
                            DNAJA3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490432617 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:4439836 (GRCh38)
                              16:4489837 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:4439835:C:T
                              Gene:
                              DNAJA3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490340040 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:4435261 (GRCh38)
                                16:4485262 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:4435260:G:A
                                Gene:
                                DNAJA3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490219650 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:4433129 (GRCh38)
                                  16:4483130 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:4433128:G:A
                                  Gene:
                                  DNAJA3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490166493 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    16:4431969 (GRCh38)
                                    16:4481970 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:4431968:T:G
                                    Gene:
                                    DNAJA3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490100924 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      16:4429834 (GRCh38)
                                      16:4479835 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:4429833:C:A
                                      Gene:
                                      DNAJA3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.0065/19 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1490017227 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AGACCAGCCTGG>- [Show Flanks]
                                        Chromosome:
                                        16:4452708 (GRCh38)
                                        16:4502709 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:4452706:GAGACCAGCCTGG:G
                                        Gene:
                                        DNAJA3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490013762 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GCCACCACGCC>- [Show Flanks]
                                          Chromosome:
                                          16:4428101 (GRCh38)
                                          16:4478102 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:4428098:CCGCCACCACGCC:CC
                                          Gene:
                                          DNAJA3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          HGVS:

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