Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 3238

1.

rs1491423807 has merged into rs11366854 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    15:41501021 (GRCh38)
    15:41793219 (GRCh37)
    Canonical SPDI:
    NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    ITPKA (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    -=0.0141/8 (NorthernSweden)
    -=0.0898/346 (ALSPAC)
    A=0.378/1893 (1000Genomes)
    HGVS:
    NC_000015.10:g.41501021_41501034del, NC_000015.10:g.41501022_41501034del, NC_000015.10:g.41501023_41501034del, NC_000015.10:g.41501024_41501034del, NC_000015.10:g.41501025_41501034del, NC_000015.10:g.41501026_41501034del, NC_000015.10:g.41501027_41501034del, NC_000015.10:g.41501029_41501034del, NC_000015.10:g.41501030_41501034del, NC_000015.10:g.41501031_41501034del, NC_000015.10:g.41501032_41501034del, NC_000015.10:g.41501033_41501034del, NC_000015.10:g.41501034del, NC_000015.10:g.41501034dup, NC_000015.10:g.41501033_41501034dup, NC_000015.10:g.41501032_41501034dup, NC_000015.9:g.41793219_41793232del, NC_000015.9:g.41793220_41793232del, NC_000015.9:g.41793221_41793232del, NC_000015.9:g.41793222_41793232del, NC_000015.9:g.41793223_41793232del, NC_000015.9:g.41793224_41793232del, NC_000015.9:g.41793225_41793232del, NC_000015.9:g.41793227_41793232del, NC_000015.9:g.41793228_41793232del, NC_000015.9:g.41793229_41793232del, NC_000015.9:g.41793230_41793232del, NC_000015.9:g.41793231_41793232del, NC_000015.9:g.41793232del, NC_000015.9:g.41793232dup, NC_000015.9:g.41793231_41793232dup, NC_000015.9:g.41793230_41793232dup
    2.

    rs1491343361 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      15:41501008 (GRCh38)
      15:41793206 (GRCh37)
      Canonical SPDI:
      NC_000015.10:41501007:GA:
      Gene:
      ITPKA (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491294231 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        15:41501009 (GRCh38)
        15:41793208 (GRCh37)
        Canonical SPDI:
        NC_000015.10:41501009::G
        Gene:
        ITPKA (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.00238/6 (GnomAD)
        HGVS:
        4.

        rs1491100498 has merged into rs11366854 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          15:41501021 (GRCh38)
          15:41793219 (GRCh37)
          Canonical SPDI:
          NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41501008:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          ITPKA (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAA=0./0 (ALFA)
          -=0.0141/8 (NorthernSweden)
          -=0.0898/346 (ALSPAC)
          A=0.378/1893 (1000Genomes)
          HGVS:
          NC_000015.10:g.41501021_41501034del, NC_000015.10:g.41501022_41501034del, NC_000015.10:g.41501023_41501034del, NC_000015.10:g.41501024_41501034del, NC_000015.10:g.41501025_41501034del, NC_000015.10:g.41501026_41501034del, NC_000015.10:g.41501027_41501034del, NC_000015.10:g.41501029_41501034del, NC_000015.10:g.41501030_41501034del, NC_000015.10:g.41501031_41501034del, NC_000015.10:g.41501032_41501034del, NC_000015.10:g.41501033_41501034del, NC_000015.10:g.41501034del, NC_000015.10:g.41501034dup, NC_000015.10:g.41501033_41501034dup, NC_000015.10:g.41501032_41501034dup, NC_000015.9:g.41793219_41793232del, NC_000015.9:g.41793220_41793232del, NC_000015.9:g.41793221_41793232del, NC_000015.9:g.41793222_41793232del, NC_000015.9:g.41793223_41793232del, NC_000015.9:g.41793224_41793232del, NC_000015.9:g.41793225_41793232del, NC_000015.9:g.41793227_41793232del, NC_000015.9:g.41793228_41793232del, NC_000015.9:g.41793229_41793232del, NC_000015.9:g.41793230_41793232del, NC_000015.9:g.41793231_41793232del, NC_000015.9:g.41793232del, NC_000015.9:g.41793232dup, NC_000015.9:g.41793231_41793232dup, NC_000015.9:g.41793230_41793232dup
          5.

          rs1490877917 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:41502254 (GRCh38)
            15:41794452 (GRCh37)
            Canonical SPDI:
            NC_000015.10:41502253:T:C
            Gene:
            ITPKA (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1490838370 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              15:41501601 (GRCh38)
              15:41793799 (GRCh37)
              Canonical SPDI:
              NC_000015.10:41501600:G:T
              Gene:
              ITPKA (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency
              MAF:
              T=0.00001/2 (GnomAD_exomes)
              HGVS:
              7.

              rs1490583967 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:41493141 (GRCh38)
                15:41785339 (GRCh37)
                Canonical SPDI:
                NC_000015.10:41493140:A:G
                Gene:
                ITPKA (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490491812 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:41499013 (GRCh38)
                  15:41791211 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:41499012:C:T
                  Gene:
                  ITPKA (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490484689 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    15:41499857 (GRCh38)
                    15:41792055 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:41499856:G:A
                    Gene:
                    ITPKA (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490343438 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      15:41500589 (GRCh38)
                      15:41792787 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:41500588:C:G
                      Gene:
                      ITPKA (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000038/10 (TOPMED)
                      HGVS:
                      11.

                      rs1490327602 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        15:41499578 (GRCh38)
                        15:41791776 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:41499577:T:G
                        Gene:
                        ITPKA (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490327318 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:41498390 (GRCh38)
                          15:41790588 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:41498389:T:C
                          Gene:
                          ITPKA (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000021/3 (GnomAD)
                          C=0.00003/8 (TOPMED)
                          C=0.009346/2 (Vietnamese)
                          HGVS:
                          13.

                          rs1490026199 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            15:41501070 (GRCh38)
                            15:41793268 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:41501069:G:A,NC_000015.10:41501069:G:T
                            Gene:
                            ITPKA (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0./0 (Korea1K)
                            A=0.00005/7 (GnomAD)
                            HGVS:
                            14.

                            rs1489863418 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:41500146 (GRCh38)
                              15:41792344 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:41500145:A:G
                              Gene:
                              ITPKA (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000029/4 (GnomAD)
                              G=0.000038/10 (TOPMED)
                              HGVS:
                              15.

                              rs1489820008 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                15:41494130 (GRCh38)
                                15:41786328 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:41494129:A:G
                                Gene:
                                ITPKA (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.00006/1 (TOMMO)
                                HGVS:
                                16.

                                rs1489531564 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  15:41496122 (GRCh38)
                                  15:41788320 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:41496121:A:T
                                  Gene:
                                  ITPKA (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000021/3 (GnomAD)
                                  T=0.000023/6 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489452734 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    A>-,AA [Show Flanks]
                                    Chromosome:
                                    15:41496702 (GRCh38)
                                    15:41788900 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:41496701:AA:A,NC_000015.10:41496701:AA:AAA
                                    Gene:
                                    ITPKA (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAA=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488364593 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:41498356 (GRCh38)
                                      15:41790554 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:41498355:G:A
                                      Gene:
                                      ITPKA (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488317857 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TC>- [Show Flanks]
                                        Chromosome:
                                        15:41502296 (GRCh38)
                                        15:41794494 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:41502292:CTCTC:CTC
                                        Gene:
                                        ITPKA (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CTC=0./0 (ALFA)
                                        -=0.000008/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        -=0.00006/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1488274679 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          15:41493847 (GRCh38)
                                          15:41786045 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:41493846:C:G,NC_000015.10:41493846:C:T
                                          Gene:
                                          ITPKA (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000029/4 (GnomAD)
                                          HGVS:

                                          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...
                                          Support Center