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Links from Gene

Items: 1 to 20 of 1309

1.

rs1490871107 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:5084955 (GRCh38)
    6:5085189 (GRCh37)
    Canonical SPDI:
    NC_000006.12:5084954:C:T
    Gene:
    LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490329697 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      6:5085929 (GRCh38)
      6:5086163 (GRCh37)
      Canonical SPDI:
      NC_000006.12:5085928:C:A
      Gene:
      LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1490053231 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:5085240 (GRCh38)
        6:5085474 (GRCh37)
        Canonical SPDI:
        NC_000006.12:5085239:G:A
        Gene:
        LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000019/5 (TOPMED)
        A=0.000021/3 (GnomAD)
        A=0.000312/2 (1000Genomes)
        HGVS:
        4.

        rs1490037000 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,G [Show Flanks]
          Chromosome:
          6:5085467 (GRCh38)
          6:5085701 (GRCh37)
          Canonical SPDI:
          NC_000006.12:5085466:T:A,NC_000006.12:5085466:T:G
          Gene:
          LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          A=0.000008/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1489726840 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            6:5085760 (GRCh38)
            6:5085995 (GRCh37)
            Canonical SPDI:
            NC_000006.12:5085760::A
            Gene:
            LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
            Validated:
            by frequency
            MAF:
            A=0.000008/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1489573893 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              6:5084298 (GRCh38)
              6:5084532 (GRCh37)
              Canonical SPDI:
              NC_000006.12:5084297:C:A,NC_000006.12:5084297:C:T
              Gene:
              LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489321783 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                6:5084419 (GRCh38)
                6:5084653 (GRCh37)
                Canonical SPDI:
                NC_000006.12:5084418:C:A
                Gene:
                LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000196/52 (TOPMED)
                A=0.000285/40 (GnomAD)
                HGVS:
                8.

                rs1489282984 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:5085117 (GRCh38)
                  6:5085351 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:5085116:C:T
                  Gene:
                  LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1488675098 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    6:5086017 (GRCh38)
                    6:5086251 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:5086016:G:C
                    Gene:
                    LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488123424 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      6:5085966 (GRCh38)
                      6:5086200 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:5085965:C:G
                      Gene:
                      LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000008/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1488031576 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:5086556 (GRCh38)
                        6:5086790 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:5086555:G:A
                        Gene:
                        LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000008/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1487996033 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:5086244 (GRCh38)
                          6:5086478 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:5086243:C:T
                          Gene:
                          LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000007/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1487278121 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAC>- [Show Flanks]
                            Chromosome:
                            6:5086509 (GRCh38)
                            6:5086743 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:5086503:ACAACAAC:ACAAC
                            Gene:
                            LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,inframe_deletion,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            ACAAC=0.000111/1 (ALFA)
                            -=0.000007/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1487046631 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              6:5085921 (GRCh38)
                              6:5086155 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:5085920:A:C
                              Gene:
                              LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487009892 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                6:5085960 (GRCh38)
                                6:5086194 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:5085959:G:A,NC_000006.12:5085959:G:C
                                Gene:
                                LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1486940245 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  6:5086365 (GRCh38)
                                  6:5086599 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:5086364:G:T
                                  Gene:
                                  LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,stop_gained,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000224/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1486756705 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    6:5087025 (GRCh38)
                                    6:5087259 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:5087024:G:C,NC_000006.12:5087024:G:T
                                    Gene:
                                    LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486361131 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:5084177 (GRCh38)
                                      6:5084411 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:5084176:G:A
                                      Gene:
                                      LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1485962910 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        6:5086913 (GRCh38)
                                        6:5087147 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:5086912:T:G
                                        Gene:
                                        LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1485205624 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          6:5085348 (GRCh38)
                                          6:5085582 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:5085347:T:A
                                          Gene:
                                          LYRM4 (Varview), PPP1R3G (Varview), LYRM4-AS1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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