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Links from Gene

Items: 1 to 20 of 1000

2.
3.

rs1490798714 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:54203859 (GRCh38)
    19:54707727 (GRCh37)
    Canonical SPDI:
    NC_000019.10:54203858:C:T
    Gene:
    RPS9 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000015/2 (GnomAD)
    HGVS:
    7.

    rs1490374483 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:54204682 (GRCh38)
      19:54708550 (GRCh37)
      Canonical SPDI:
      NC_000019.10:54204681:G:A
      Gene:
      RPS9 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000021/3 (GnomAD)
      A=0.000057/15 (TOPMED)
      G=0.5/1 (SGDP_PRJ)
      HGVS:
      8.

      rs1490354319 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:54201438 (GRCh38)
        19:54705306 (GRCh37)
        Canonical SPDI:
        NC_000019.10:54201437:T:C
        Gene:
        RPS9 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        HGVS:
        9.
        11.

        rs1490255665 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:54201714 (GRCh38)
          19:54705582 (GRCh37)
          Canonical SPDI:
          NC_000019.10:54201713:A:G
          Gene:
          RPS9 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000014/2 (GnomAD)
          HGVS:
          13.

          rs1490174089 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:54206472 (GRCh38)
            19:54710340 (GRCh37)
            Canonical SPDI:
            NC_000019.10:54206471:C:T
            Gene:
            RPS9 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000071/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000021/3 (GnomAD)
            T=0.000023/6 (TOPMED)
            HGVS:
            14.
            15.

            rs1489719657 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:54202512 (GRCh38)
              19:54706380 (GRCh37)
              Canonical SPDI:
              NC_000019.10:54202511:G:A
              Gene:
              RPS9 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              16.

              rs1489366915 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:54199819 (GRCh38)
                19:54703686 (GRCh37)
                Canonical SPDI:
                NC_000019.10:54199818:A:G
                Gene:
                RPS9 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                17.

                rs1489335084 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  19:54200711 (GRCh38)
                  19:54704579 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:54200710:T:A
                  Gene:
                  RPS9 (Varview)
                  Functional Consequence:
                  2KB_upstream_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:
                  19.

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