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Links from Nucleotide

Items: 1 to 20 of 897

1.

rs1490942950 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    9:41007523 (GRCh38)
    9:69080752 (GRCh37)
    Canonical SPDI:
    NC_000009.12:41007522:A:G,NC_000009.12:41007522:A:T
    Gene:
    PGM5P2 (Varview), FRG1HP (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490891113 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      9:41007251 (GRCh38)
      9:69080480 (GRCh37)
      Canonical SPDI:
      NC_000009.12:41007250:A:T
      Gene:
      PGM5P2 (Varview), FRG1HP (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000084/1 (ALFA)
      T=0.000064/9 (GnomAD)
      HGVS:
      3.

      rs1490672655 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:41039654 (GRCh38)
        9:69112883 (GRCh37)
        Canonical SPDI:
        NC_000009.12:41039653:G:A
        Gene:
        PGM5P2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000114/16 (GnomAD)
        A=0.000142/4 (TOMMO)
        HGVS:
        4.

        rs1490447862 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          9:41007390 (GRCh38)
          9:69080619 (GRCh37)
          Canonical SPDI:
          NC_000009.12:41007389:G:A,NC_000009.12:41007389:G:T
          Gene:
          PGM5P2 (Varview), FRG1HP (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.00031/2 (1000Genomes)
          HGVS:
          5.

          rs1490133363 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G,T [Show Flanks]
            Chromosome:
            9:41031441 (GRCh38)
            9:69104670 (GRCh37)
            Canonical SPDI:
            NC_000009.12:41031440:C:A,NC_000009.12:41031440:C:G,NC_000009.12:41031440:C:T
            Gene:
            PGM5P2 (Varview), FRG1HP (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            T=0.000014/2 (GnomAD)
            G=0.000071/2 (TOMMO)
            A=0.000312/2 (1000Genomes)
            HGVS:
            6.

            rs1489973444 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:41007294 (GRCh38)
              9:69080523 (GRCh37)
              Canonical SPDI:
              NC_000009.12:41007293:A:G
              Gene:
              PGM5P2 (Varview), FRG1HP (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1488621228 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                9:41053798 (GRCh38)
                9:69127027 (GRCh37)
                Canonical SPDI:
                NC_000009.12:41053797:G:T
                Gene:
                PGM5P2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1488313331 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  9:41047594 (GRCh38)
                  9:69120823 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:41047593:G:A,NC_000009.12:41047593:G:T
                  Gene:
                  PGM5P2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.00004/1 (TOMMO)
                  A=0.00055/1 (Korea1K)
                  HGVS:
                  9.

                  rs1488263716 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    9:41040490 (GRCh38)
                    9:69113719 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:41040489:G:T
                    Gene:
                    PGM5P2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000084/1 (ALFA)
                    T=0./0 (GnomAD)
                    HGVS:
                    10.

                    rs1487713015 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      9:41074533 (GRCh38)
                      9:69147762 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:41074532:C:A,NC_000009.12:41074532:C:T
                      Gene:
                      PGM5P2 (Varview), LOC124902161 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1487106268 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:41025788 (GRCh38)
                        9:69099017 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:41025787:T:C
                        Gene:
                        PGM5P2 (Varview), FRG1HP (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1486679381 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:41007131 (GRCh38)
                          9:69080360 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:41007130:G:A
                          Gene:
                          PGM5P2 (Varview), FRG1HP (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000506/6 (ALFA)
                          A=0.000342/48 (GnomAD)
                          A=0.000468/3 (1000Genomes)
                          HGVS:
                          13.

                          rs1486263091 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:41039673 (GRCh38)
                            9:69112902 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:41039672:A:G
                            Gene:
                            PGM5P2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs1485717362 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              9:41074245 (GRCh38)
                              9:69147474 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:41074244:G:A,NC_000009.12:41074244:G:T
                              Gene:
                              PGM5P2 (Varview), LOC124902161 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1484820250 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:41007022 (GRCh38)
                                9:69080251 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:41007021:A:G
                                Gene:
                                PGM5P2 (Varview), FRG1HP (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484696760 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  9:41074549 (GRCh38)
                                  9:69147778 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:41074548:C:A,NC_000009.12:41074548:C:G,NC_000009.12:41074548:C:T
                                  Gene:
                                  PGM5P2 (Varview), LOC124902161 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  T=0.000468/3 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1484250237 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    9:41044604 (GRCh38)
                                    9:69117833 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:41044603:T:A,NC_000009.12:41044603:T:C
                                    Gene:
                                    PGM5P2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1483834003 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      9:41074587 (GRCh38)
                                      9:69147816 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:41074586:C:G,NC_000009.12:41074586:C:T
                                      Gene:
                                      PGM5P2 (Varview), LOC124902161 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.00028/5 (TOMMO)
                                      T=0.00031/2 (1000Genomes)
                                      G=0.00225/4 (Korea1K)
                                      G=0.00248/7 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1482287375 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        9:41074435 (GRCh38)
                                        9:69147664 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:41074434:G:C,NC_000009.12:41074434:G:T
                                        Gene:
                                        PGM5P2 (Varview), LOC124902161 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000057/8 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1481550388 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          9:41007279 (GRCh38)
                                          9:69080508 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:41007278:A:C
                                          Gene:
                                          PGM5P2 (Varview), FRG1HP (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:

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