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Links from Nucleotide

Items: 1 to 20 of 33

1.

rs1484378555 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:100356702 (GRCh38)
    7:99954325 (GRCh37)
    Canonical SPDI:
    NC_000007.14:100356701:G:A
    Gene:
    PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
    HGVS:
    2.

    rs1476509765 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      7:100356657 (GRCh38)
      7:99954280 (GRCh37)
      Canonical SPDI:
      NC_000007.14:100356656:C:A
      Gene:
      PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1469166371 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        7:100356718 (GRCh38)
        7:99954341 (GRCh37)
        Canonical SPDI:
        NC_000007.14:100356717:C:T
        Gene:
        PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000051/1 (ALFA)
        T=0.000007/1 (GnomAD_exomes)
        T=0.000342/1 (KOREAN)
        HGVS:
        4.

        rs1454291121 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          7:100356659 (GRCh38)
          7:99954282 (GRCh37)
          Canonical SPDI:
          NC_000007.14:100356658:C:T
          Gene:
          PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1427124359 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:100356715 (GRCh38)
            7:99954338 (GRCh37)
            Canonical SPDI:
            NC_000007.14:100356714:G:A
            Gene:
            PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
            HGVS:
            6.

            rs1363262063 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              7:100356658 (GRCh38)
              7:99954281 (GRCh37)
              Canonical SPDI:
              NC_000007.14:100356657:C:T
              Gene:
              PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              T=0.000044/6 (GnomAD_exomes)
              HGVS:
              7.

              rs1337080033 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:100356671 (GRCh38)
                7:99954294 (GRCh37)
                Canonical SPDI:
                NC_000007.14:100356670:C:T
                Gene:
                PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                T=0.000007/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1316965514 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CT>- [Show Flanks]
                  Chromosome:
                  7:100356683 (GRCh38)
                  7:99954306 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:100356682:CT:
                  Gene:
                  PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.000111/1 (ALFA)
                  -=0.000014/2 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1315422888 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    7:100356708 (GRCh38)
                    7:99954331 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:100356707:G:T
                    Gene:
                    PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1305704441 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      7:100356681 (GRCh38)
                      7:99954304 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:100356680:C:A,NC_000007.14:100356680:C:T
                      Gene:
                      PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1282417113 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:100356675 (GRCh38)
                        7:99954298 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:100356674:C:T
                        Gene:
                        PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1277761640 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          7:100356698 (GRCh38)
                          7:99954321 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:100356697:C:A,NC_000007.14:100356697:C:T
                          Gene:
                          PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1216024642 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            7:100356687 (GRCh38)
                            7:99954311 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:100356687:A:AA
                            Gene:
                            PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            AA=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1208577973 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              7:100356678 (GRCh38)
                              7:99954302 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:100356678:T:TT
                              Gene:
                              PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TT=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1187368627 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:100356655 (GRCh38)
                                7:99954278 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:100356654:C:T
                                Gene:
                                PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1175676927 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:100356703 (GRCh38)
                                  7:99954326 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:100356702:A:G
                                  Gene:
                                  PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000007/1 (GnomAD_exomes)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1171546759 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    7:100356714 (GRCh38)
                                    7:99954337 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:100356713:G:A
                                    Gene:
                                    PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1161275624 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:100356713 (GRCh38)
                                      7:99954336 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:100356712:G:A
                                      Gene:
                                      PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                      HGVS:
                                      19.

                                      rs1054810279 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:100356711 (GRCh38)
                                        7:99954334 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:100356710:C:T
                                        Gene:
                                        PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.00002/3 (GnomAD_exomes)
                                        T=0.000045/12 (TOPMED)
                                        T=0.000078/11 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1040541405 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          7:100356661 (GRCh38)
                                          7:99954284 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:100356660:C:A,NC_000007.14:100356660:C:T
                                          Gene:
                                          PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD_exomes)
                                          T=0.000023/6 (TOPMED)
                                          T=0.000177/3 (TOMMO)
                                          HGVS:

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