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Links from Gene

Items: 1 to 20 of 6930

1.

rs1491548018 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    2:68156101 (GRCh38)
    2:68383233 (GRCh37)
    Canonical SPDI:
    NC_000002.12:68156100:CA:
    Gene:
    PNO1 (Varview), DNAAF10 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.0016/19 (ALFA)
    HGVS:
    2.

    rs1491388529 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      2:68154451 (GRCh38)
      2:68381583 (GRCh37)
      Canonical SPDI:
      NC_000002.12:68154450:TT:
      Gene:
      DNAAF10 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491377063 has merged into rs10606309 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        2:68156110 (GRCh38)
        2:68383242 (GRCh37)
        Canonical SPDI:
        NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        PNO1 (Varview), DNAAF10 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000002.12:g.68156110_68156125del, NC_000002.12:g.68156114_68156125del, NC_000002.12:g.68156115_68156125del, NC_000002.12:g.68156116_68156125del, NC_000002.12:g.68156117_68156125del, NC_000002.12:g.68156118_68156125del, NC_000002.12:g.68156119_68156125del, NC_000002.12:g.68156121_68156125del, NC_000002.12:g.68156122_68156125del, NC_000002.12:g.68156123_68156125del, NC_000002.12:g.68156124_68156125del, NC_000002.12:g.68156125del, NC_000002.12:g.68156125dup, NC_000002.12:g.68156124_68156125dup, NC_000002.12:g.68156123_68156125dup, NC_000002.12:g.68156122_68156125dup, NC_000002.12:g.68156121_68156125dup, NC_000002.12:g.68156120_68156125dup, NC_000002.12:g.68156119_68156125dup, NC_000002.12:g.68156118_68156125dup, NC_000002.12:g.68156125_68156126insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.68383242_68383257del, NC_000002.11:g.68383246_68383257del, NC_000002.11:g.68383247_68383257del, NC_000002.11:g.68383248_68383257del, NC_000002.11:g.68383249_68383257del, NC_000002.11:g.68383250_68383257del, NC_000002.11:g.68383251_68383257del, NC_000002.11:g.68383253_68383257del, NC_000002.11:g.68383254_68383257del, NC_000002.11:g.68383255_68383257del, NC_000002.11:g.68383256_68383257del, NC_000002.11:g.68383257del, NC_000002.11:g.68383257dup, NC_000002.11:g.68383256_68383257dup, NC_000002.11:g.68383255_68383257dup, NC_000002.11:g.68383254_68383257dup, NC_000002.11:g.68383253_68383257dup, NC_000002.11:g.68383252_68383257dup, NC_000002.11:g.68383251_68383257dup, NC_000002.11:g.68383250_68383257dup, NC_000002.11:g.68383257_68383258insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        4.

        rs1491303493 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->CGATAT [Show Flanks]
          Chromosome:
          2:68130105 (GRCh38)
          2:68357238 (GRCh37)
          Canonical SPDI:
          NC_000002.12:68130105::CGATAT
          Gene:
          DNAAF10 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1491275995 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TAGCCA [Show Flanks]
            Chromosome:
            2:68154451 (GRCh38)
            2:68381584 (GRCh37)
            Canonical SPDI:
            NC_000002.12:68154451:TAGCCA:TAGCCATAGCCA
            Gene:
            DNAAF10 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TAGCCATAGCCA=0./0 (ALFA)
            TAGCCA=0.000004/1 (TOPMED)
            TAGCCA=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490946239 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              2:68152205 (GRCh38)
              2:68379337 (GRCh37)
              Canonical SPDI:
              NC_000002.12:68152204:G:T
              Gene:
              DNAAF10 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000214/3 (ALFA)
              T=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1490943009 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:68147095 (GRCh38)
                2:68374227 (GRCh37)
                Canonical SPDI:
                NC_000002.12:68147094:A:G
                Gene:
                DNAAF10 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490931176 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  2:68153356 (GRCh38)
                  2:68380489 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:68153356::G
                  Gene:
                  DNAAF10 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1490906150 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    C>- [Show Flanks]
                    Chromosome:
                    2:68149811 (GRCh38)
                    2:68376943 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:68149810:CC:C
                    Gene:
                    DNAAF10 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CC=0.000071/1 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1490826664 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      2:68143805 (GRCh38)
                      2:68370937 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:68143804:G:A,NC_000002.12:68143804:G:T
                      Gene:
                      DNAAF10 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490664838 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:68130957 (GRCh38)
                        2:68358089 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:68130956:C:T
                        Gene:
                        DNAAF10 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000142/2 (ALFA)
                        T=0.000112/15 (GnomAD)
                        HGVS:
                        12.

                        rs1490555447 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GTAA>- [Show Flanks]
                          Chromosome:
                          2:68136824 (GRCh38)
                          2:68363956 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:68136816:TAAGTAAGTAA:TAAGTAA
                          Gene:
                          DNAAF10 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TAAGTAA=0./0 (ALFA)
                          -=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1490491292 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:68154396 (GRCh38)
                            2:68381528 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:68154395:G:A
                            Gene:
                            DNAAF10 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000023/6 (TOPMED)
                            HGVS:
                            14.

                            rs1490455179 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:68152729 (GRCh38)
                              2:68379861 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:68152728:G:A
                              Gene:
                              DNAAF10 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490448538 has merged into rs757832176 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
                                Chromosome:
                                2:68137889 (GRCh38)
                                2:68365021 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
                                Gene:
                                DNAAF10 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTTTT=0./0 (ALFA)
                                -=0.075/3 (GENOME_DK)
                                HGVS:
                                16.

                                rs1490440404 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C,T [Show Flanks]
                                  Chromosome:
                                  2:68153742 (GRCh38)
                                  2:68380874 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:68153741:G:A,NC_000002.12:68153741:G:C,NC_000002.12:68153741:G:T
                                  Gene:
                                  DNAAF10 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/1 (GnomAD)
                                  T=0.001523/43 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1490247360 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    2:68130026 (GRCh38)
                                    2:68357158 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:68130025:C:A,NC_000002.12:68130025:C:G,NC_000002.12:68130025:C:T
                                    Gene:
                                    DNAAF10 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490127064 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:68151675 (GRCh38)
                                      2:68378807 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:68151674:G:A
                                      Gene:
                                      DNAAF10 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490120460 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TTGGA>- [Show Flanks]
                                        Chromosome:
                                        2:68148231 (GRCh38)
                                        2:68375363 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:68148230:TTGGA:
                                        Gene:
                                        DNAAF10 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.000224/1 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000223/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1490084489 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:68150787 (GRCh38)
                                          2:68377919 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:68150786:G:A
                                          Gene:
                                          DNAAF10 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000011/3 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:

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