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Links from Protein

Items: 1 to 20 of 227

1.

rs1489603565 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:123436382 (GRCh38)
    12:123920929 (GRCh37)
    Canonical SPDI:
    NC_000012.12:123436381:C:T
    Gene:
    RILPL2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000006/1 (GnomAD_exomes)
    T=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1485820044 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:123423130 (GRCh38)
      12:123907677 (GRCh37)
      Canonical SPDI:
      NC_000012.12:123423129:T:C
      Gene:
      RILPL2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1483848785 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        12:123436253 (GRCh38)
        12:123920800 (GRCh37)
        Canonical SPDI:
        NC_000012.12:123436252:G:A,NC_000012.12:123436252:G:T
        Gene:
        RILPL2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1481852767 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          12:123436294 (GRCh38)
          12:123920841 (GRCh37)
          Canonical SPDI:
          NC_000012.12:123436293:C:G
          Gene:
          RILPL2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1481083906 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            12:123430510 (GRCh38)
            12:123915057 (GRCh37)
            Canonical SPDI:
            NC_000012.12:123430509:C:G
            Gene:
            RILPL2 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000008/2 (GnomAD_exomes)
            HGVS:
            7.

            rs1474182690 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:123430522 (GRCh38)
              12:123915069 (GRCh37)
              Canonical SPDI:
              NC_000012.12:123430521:C:A
              Gene:
              RILPL2 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000007/1 (GnomAD)
              HGVS:
              8.

              rs1473901292 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:123436397 (GRCh38)
                12:123920944 (GRCh37)
                Canonical SPDI:
                NC_000012.12:123436396:T:C
                Gene:
                RILPL2 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.00004/1 (TOMMO)
                C=0.00034/1 (KOREAN)
                HGVS:
                9.

                rs1473838776 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  12:123436126 (GRCh38)
                  12:123920673 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:123436125:C:T
                  Gene:
                  RILPL2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  HGVS:
                  10.

                  rs1467285340 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:123436315 (GRCh38)
                    12:123920862 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:123436314:G:A
                    Gene:
                    RILPL2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    11.
                    13.

                    rs1456271506 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:123436160 (GRCh38)
                      12:123920707 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:123436159:C:T
                      Gene:
                      RILPL2 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_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:
                      14.
                      15.

                      rs1452830758 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        12:123436268 (GRCh38)
                        12:123920815 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:123436267:C:A
                        Gene:
                        RILPL2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000007/1 (GnomAD)
                        A=0.000015/4 (TOPMED)
                        HGVS:
                        16.

                        rs1452459037 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          12:123436342 (GRCh38)
                          12:123920889 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:123436341:C:G
                          Gene:
                          RILPL2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          17.

                          rs1450470238 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:123436279 (GRCh38)
                            12:123920826 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:123436278:A:G
                            Gene:
                            RILPL2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:
                            18.

                            rs1450446078 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:123436128 (GRCh38)
                              12:123920675 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:123436127:T:C
                              Gene:
                              RILPL2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_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:
                              19.

                              rs1439705384 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:123436094 (GRCh38)
                                12:123920641 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:123436093:C:T
                                Gene:
                                RILPL2 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000005/1 (GnomAD_exomes)
                                HGVS:

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