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Links from Gene

Items: 1 to 20 of 1715

1.

rs1491160610 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    22:39530735 (GRCh38)
    22:39926741 (GRCh37)
    Canonical SPDI:
    NC_000022.11:39530735::C
    Gene:
    RPS19BP1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490789737 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      22:39533248 (GRCh38)
      22:39929253 (GRCh37)
      Canonical SPDI:
      NC_000022.11:39533247:T:A,NC_000022.11:39533247:T:C
      Gene:
      RPS19BP1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.004673/1 (Vietnamese)
      HGVS:
      3.

      rs1489355313 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GACC>- [Show Flanks]
        Chromosome:
        22:39532779 (GRCh38)
        22:39928784 (GRCh37)
        Canonical SPDI:
        NC_000022.11:39532776:CCGACC:CC
        Gene:
        RPS19BP1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CC=0./0 (ALFA)
        -=0.000016/2 (GnomAD_exomes)
        -=0.000022/3 (GnomAD)
        -=0.000038/10 (TOPMED)
        HGVS:
        4.

        rs1489095369 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TC>- [Show Flanks]
          Chromosome:
          22:39529288 (GRCh38)
          22:39925293 (GRCh37)
          Canonical SPDI:
          NC_000022.11:39529286:CTC:C
          Gene:
          RPS19BP1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488533650 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            22:39534756 (GRCh38)
            22:39930761 (GRCh37)
            Canonical SPDI:
            NC_000022.11:39534755:G:A
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1488520797 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              22:39533656 (GRCh38)
              22:39929661 (GRCh37)
              Canonical SPDI:
              NC_000022.11:39533655:G:C
              Gene:
              RPS19BP1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487589232 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                22:39528857 (GRCh38)
                22:39924862 (GRCh37)
                Canonical SPDI:
                NC_000022.11:39528856:C:A,NC_000022.11:39528856:C:T
                Gene:
                RPS19BP1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                T=0.000212/4 (TOMMO)
                HGVS:
                8.

                rs1486262896 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  22:39530769 (GRCh38)
                  22:39926774 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:39530768:G:A
                  Gene:
                  RPS19BP1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000142/2 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1485243712 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:39529573 (GRCh38)
                    22:39925578 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:39529572:C:T
                    Gene:
                    RPS19BP1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000094/2 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1485205901 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      22:39530871 (GRCh38)
                      22:39926876 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:39530870:C:T
                      Gene:
                      RPS19BP1 (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:
                      11.

                      rs1484413189 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        22:39529633 (GRCh38)
                        22:39925638 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:39529632:G:A,NC_000022.11:39529632:G:C
                        Gene:
                        RPS19BP1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1483875027 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          22:39533478 (GRCh38)
                          22:39929483 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:39533477:A:C
                          Gene:
                          RPS19BP1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1483743142 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:39534544 (GRCh38)
                            22:39930549 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:39534543:C:T
                            Gene:
                            RPS19BP1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000011/3 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1483635756 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:39530510 (GRCh38)
                              22:39926515 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:39530509:G:A
                              Gene:
                              RPS19BP1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1483573760 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                22:39531325 (GRCh38)
                                22:39927330 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:39531324:T:G
                                Gene:
                                RPS19BP1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483437466 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  22:39530041 (GRCh38)
                                  22:39926046 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:39530040:C:G,NC_000022.11:39530040:C:T
                                  Gene:
                                  RPS19BP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.00003/8 (TOPMED)
                                  G=0.003821/7 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1483060229 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:39533434 (GRCh38)
                                    22:39929439 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:39533433:G:A
                                    Gene:
                                    RPS19BP1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1483050895 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      22:39532746 (GRCh38)
                                      22:39928751 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:39532745:C:G,NC_000022.11:39532745:C:T
                                      Gene:
                                      RPS19BP1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1482921191 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        22:39532263 (GRCh38)
                                        22:39928268 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:39532262:C:A,NC_000022.11:39532262:C:T
                                        Gene:
                                        RPS19BP1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482434766 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          22:39531502 (GRCh38)
                                          22:39927507 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:39531501:A:C,NC_000022.11:39531501:A:G
                                          Gene:
                                          RPS19BP1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000021/3 (GnomAD)
                                          HGVS:

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