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Links from Gene

Items: 1 to 20 of 1022

1.

rs1490787554 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    22:21044236 (GRCh38)
    22:21398525 (GRCh37)
    Canonical SPDI:
    NC_000022.11:21044235:T:G
    Gene:
    LRRC74B (Varview), P2RX6P (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000156/1 (1000Genomes)
    HGVS:
    2.

    rs1490553056 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      22:21046223 (GRCh38)
      22:21400512 (GRCh37)
      Canonical SPDI:
      NC_000022.11:21046222:G:A,NC_000022.11:21046222:G:T
      Gene:
      LRRC74B (Varview), P2RX6P (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000034/9 (TOPMED)
      HGVS:
      3.

      rs1490423814 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        22:21045088 (GRCh38)
        22:21399377 (GRCh37)
        Canonical SPDI:
        NC_000022.11:21045087:AAA:AA
        Gene:
        LRRC74B (Varview), P2RX6P (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        AA=0./0 (ALFA)
        -=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490408598 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          22:21045214 (GRCh38)
          22:21399503 (GRCh37)
          Canonical SPDI:
          NC_000022.11:21045213:T:C
          Gene:
          LRRC74B (Varview), P2RX6P (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489704596 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            22:21045874 (GRCh38)
            22:21400163 (GRCh37)
            Canonical SPDI:
            NC_000022.11:21045873:C:T
            Gene:
            LRRC74B (Varview), P2RX6P (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1488157168 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              22:21046133 (GRCh38)
              22:21400422 (GRCh37)
              Canonical SPDI:
              NC_000022.11:21046132:G:C
              Gene:
              LRRC74B (Varview), P2RX6P (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,genic_upstream_transcript_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.

              rs1487871854 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                T>- [Show Flanks]
                Chromosome:
                22:21043828 (GRCh38)
                22:21398117 (GRCh37)
                Canonical SPDI:
                NC_000022.11:21043827:T:
                Gene:
                P2RX6P (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1486572448 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  22:21045273 (GRCh38)
                  22:21399562 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:21045272:C:G,NC_000022.11:21045272:C:T
                  Gene:
                  LRRC74B (Varview), P2RX6P (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1486228990 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    22:21042472 (GRCh38)
                    22:21396761 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:21042471:A:C,NC_000022.11:21042471:A:G
                    Gene:
                    P2RX6P (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1484624809 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:21043586 (GRCh38)
                      22:21397875 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:21043585:G:A
                      Gene:
                      P2RX6P (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000023/6 (TOPMED)
                      HGVS:
                      11.

                      rs1484597478 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        22:21042851 (GRCh38)
                        22:21397140 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:21042850:G:C
                        Gene:
                        P2RX6P (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        13.

                        rs1484312382 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          22:21043974 (GRCh38)
                          22:21398263 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:21043973:C:T
                          Gene:
                          LRRC74B (Varview), P2RX6P (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          14.

                          rs1484139574 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            22:21046167 (GRCh38)
                            22:21400456 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:21046166:G:T
                            Gene:
                            LRRC74B (Varview), P2RX6P (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            15.

                            rs1482951690 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:21045060 (GRCh38)
                              22:21399349 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:21045059:C:T
                              Gene:
                              LRRC74B (Varview), P2RX6P (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              16.

                              rs1482585252 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                22:21044879 (GRCh38)
                                22:21399168 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:21044873:TCTCTCT:TCTCT
                                Gene:
                                LRRC74B (Varview), P2RX6P (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TCTCT=0./0 (ALFA)
                                -=0.000021/3 (GnomAD)
                                -=0.000023/6 (TOPMED)
                                HGVS:
                                17.

                                rs1481185156 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  22:21045441 (GRCh38)
                                  22:21399730 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:21045440:T:C
                                  Gene:
                                  LRRC74B (Varview), P2RX6P (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  HGVS:
                                  18.

                                  rs1481135075 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:21045792 (GRCh38)
                                    22:21400081 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:21045791:C:T
                                    Gene:
                                    LRRC74B (Varview), P2RX6P (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000019/5 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1481032296 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      22:21043002 (GRCh38)
                                      22:21397291 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:21043001:G:A
                                      Gene:
                                      P2RX6P (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1480621274 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:21042957 (GRCh38)
                                        22:21397246 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:21042956:C:T
                                        Gene:
                                        P2RX6P (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:

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