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Links from Nucleotide

Items: 1 to 20 of 4946

1.

rs781779752 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:8951273 (GRCh38)
    17:8854590 (GRCh37)
    Canonical SPDI:
    NC_000017.11:8951272:G:A
    Gene:
    PIK3R5 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000069/1 (ALFA)
    A=0./0 (ALSPAC)
    A=0.00006/1 (TOMMO)
    A=0.000164/23 (GnomAD)
    A=0.00017/45 (TOPMED)
    A=0.000539/2 (TWINSUK)
    HGVS:
    2.

    rs781772771 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:8887605 (GRCh38)
      17:8790922 (GRCh37)
      Canonical SPDI:
      NC_000017.11:8887604:A:G
      Gene:
      PIK3R5 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000045/2 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000021/5 (GnomAD_exomes)
      G=0.000025/2 (ExAC)
      G=0.00463/1 (Qatari)
      HGVS:
      3.

      rs781766077 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        17:8944619 (GRCh38)
        17:8847936 (GRCh37)
        Canonical SPDI:
        NC_000017.11:8944618:A:T
        Gene:
        PIK3R5 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,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:
        4.

        rs781738667 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          17:8952321 (GRCh38)
          17:8855638 (GRCh37)
          Canonical SPDI:
          NC_000017.11:8952320:T:G
          Gene:
          PIK3R5 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000142/2 (ALFA)
          G=0./0 (ALSPAC)
          G=0.000014/2 (GnomAD)
          G=0.000026/7 (TOPMED)
          G=0.00027/1 (TWINSUK)
          HGVS:
          5.

          rs781732119 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:8881690 (GRCh38)
            17:8785007 (GRCh37)
            Canonical SPDI:
            NC_000017.11:8881689:C:T
            Gene:
            PIK3R5 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000028/1 (ALFA)
            T=0.000008/2 (GnomAD_exomes)
            T=0.000009/1 (ExAC)
            T=0.000019/5 (TOPMED)
            T=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs781708613 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              17:8940395 (GRCh38)
              17:8843712 (GRCh37)
              Canonical SPDI:
              NC_000017.11:8940394:C:G,NC_000017.11:8940394:C:T
              Gene:
              PIK3R5 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0./0 (TWINSUK)
              T=0.00026/1 (ALSPAC)
              HGVS:
              7.

              rs781675040 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                17:8887537 (GRCh38)
                17:8790854 (GRCh37)
                Canonical SPDI:
                NC_000017.11:8887536:C:A,NC_000017.11:8887536:C:G
                Gene:
                PIK3R5 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (GnomAD_exomes)
                A=0.000015/1 (ExAC)
                HGVS:
                NC_000017.11:g.8887537C>A, NC_000017.11:g.8887537C>G, NC_000017.10:g.8790854C>A, NC_000017.10:g.8790854C>G, NG_030374.1:g.83176G>T, NG_030374.1:g.83176G>C, NM_014308.4:c.1763G>T, NM_014308.4:c.1763G>C, NM_014308.3:c.1763G>T, NM_014308.3:c.1763G>C, NM_001142633.3:c.1763G>T, NM_001142633.3:c.1763G>C, NM_001142633.2:c.1763G>T, NM_001142633.2:c.1763G>C, NM_001251851.2:c.605G>T, NM_001251851.2:c.605G>C, NM_001251851.1:c.605G>T, NM_001251851.1:c.605G>C, NM_001251852.2:c.605G>T, NM_001251852.2:c.605G>C, NM_001251852.1:c.605G>T, NM_001251852.1:c.605G>C, NM_001251853.2:c.605G>T, NM_001251853.2:c.605G>C, NM_001251853.1:c.605G>T, NM_001251853.1:c.605G>C, NM_001251855.2:c.605G>T, NM_001251855.2:c.605G>C, NM_001251855.1:c.605G>T, NM_001251855.1:c.605G>C, NM_001388399.1:c.605G>T, NM_001388399.1:c.605G>C, NM_001388398.1:c.605G>T, NM_001388398.1:c.605G>C, NM_001388397.1:c.605G>T, NM_001388397.1:c.605G>C, NM_001388396.1:c.1763G>T, NM_001388396.1:c.1763G>C, NM_001388400.1:c.605G>T, NM_001388400.1:c.605G>C, NP_055123.2:p.Arg588Met, NP_055123.2:p.Arg588Thr, NP_001136105.1:p.Arg588Met, NP_001136105.1:p.Arg588Thr, NP_001238780.1:p.Arg202Met, NP_001238780.1:p.Arg202Thr, NP_001238781.1:p.Arg202Met, NP_001238781.1:p.Arg202Thr, NP_001238782.1:p.Arg202Met, NP_001238782.1:p.Arg202Thr, NP_001238784.1:p.Arg202Met, NP_001238784.1:p.Arg202Thr, NP_001375328.1:p.Arg202Met, NP_001375328.1:p.Arg202Thr, NP_001375327.1:p.Arg202Met, NP_001375327.1:p.Arg202Thr, NP_001375326.1:p.Arg202Met, NP_001375326.1:p.Arg202Thr, NP_001375325.1:p.Arg588Met, NP_001375325.1:p.Arg588Thr, NP_001375329.1:p.Arg202Met, NP_001375329.1:p.Arg202Thr
                8.

                rs781668857 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  17:8905634 (GRCh38)
                  17:8808951 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:8905633:C:G,NC_000017.11:8905633:C:T
                  Gene:
                  PIK3R5 (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)
                  G=0.000012/2 (GnomAD_exomes)
                  G=0.000073/2 (ExAC)
                  HGVS:
                  9.

                  rs781652888 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    17:8922872 (GRCh38)
                    17:8826189 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:8922871:G:A,NC_000017.11:8922871:G:C
                    Gene:
                    PIK3R5 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0./0 (TWINSUK)
                    A=0.000004/1 (TOPMED)
                    A=0.000259/1 (ALSPAC)
                    HGVS:
                    10.

                    rs781625910 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      17:8911540 (GRCh38)
                      17:8814857 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:8911539:G:A,NC_000017.11:8911539:G:T
                      Gene:
                      PIK3R5 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000171/4 (ALFA)
                      A=0.000029/4 (GnomAD)
                      A=0.000049/13 (TOPMED)
                      A=0.00006/1 (TOMMO)
                      A=0.000062/13 (GnomAD_exomes)
                      A=0.000075/7 (ExAC)
                      A=0.000259/1 (ALSPAC)
                      A=0.001079/4 (TWINSUK)
                      HGVS:
                      11.

                      rs781611751 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:8941056 (GRCh38)
                        17:8844373 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:8941055:G:A
                        Gene:
                        PIK3R5 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0./0 (ALSPAC)
                        A=0.0003/1 (TWINSUK)
                        HGVS:
                        12.

                        rs781575408 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:8897984 (GRCh38)
                          17:8801301 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:8897983:C:T
                          Gene:
                          PIK3R5 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0./0 (TWINSUK)
                          T=0.000004/1 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          T=0.000259/1 (ALSPAC)
                          HGVS:
                          13.

                          rs781560120 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            17:8963588 (GRCh38)
                            17:8866905 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:8963587:A:C,NC_000017.11:8963587:A:G
                            Gene:
                            PIK3R5 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0./0 (TWINSUK)
                            G=0.000122/17 (GnomAD)
                            G=0.000259/1 (ALSPAC)
                            HGVS:
                            15.

                            rs781475583 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              17:8881883 (GRCh38)
                              17:8785200 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:8881882:T:C
                              Gene:
                              PIK3R5 (Varview)
                              Functional Consequence:
                              splice_acceptor_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.00001/1 (ExAC)
                              HGVS:
                              16.

                              rs781471535 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:8916277 (GRCh38)
                                17:8819594 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:8916276:T:C
                                Gene:
                                PIK3R5 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0./0 (ALSPAC)
                                C=0.00005/7 (GnomAD)
                                C=0.000072/19 (TOPMED)
                                C=0.00027/1 (TWINSUK)
                                HGVS:
                                17.

                                rs781336735 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  17:8959119 (GRCh38)
                                  17:8862436 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:8959118:A:C,NC_000017.11:8959118:A:G
                                  Gene:
                                  PIK3R5 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  C=0./0 (ALSPAC)
                                  C=0.000038/10 (TOPMED)
                                  C=0.00005/7 (GnomAD)
                                  C=0.00027/1 (TWINSUK)
                                  HGVS:
                                  18.

                                  rs781274038 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    17:8880878 (GRCh38)
                                    17:8784195 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:8880877:CCCC:CCC
                                    Gene:
                                    PIK3R5 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    -=0./0 (ALSPAC)
                                    -=0.0003/1 (TWINSUK)
                                    HGVS:
                                    19.

                                    rs781265182 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:8929993 (GRCh38)
                                      17:8833310 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:8929992:G:A
                                      Gene:
                                      PIK3R5 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000142/2 (ALFA)
                                      A=0./0 (ALSPAC)
                                      A=0.000021/3 (GnomAD)
                                      A=0.000049/13 (TOPMED)
                                      A=0.00027/1 (TWINSUK)
                                      HGVS:
                                      20.

                                      rs781227561 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        17:8911539 (GRCh38)
                                        17:8814856 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:8911538:C:G,NC_000017.11:8911538:C:T
                                        Gene:
                                        PIK3R5 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000015/4 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:

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