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Links from Protein

Items: 1 to 20 of 447

1.

rs1486291837 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    17:47838416 (GRCh38)
    17:45915782 (GRCh37)
    Canonical SPDI:
    NC_000017.11:47838415:C:A
    Gene:
    SCRN2 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1486235875 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      17:47840778 (GRCh38)
      17:45918144 (GRCh37)
      Canonical SPDI:
      NC_000017.11:47840777:T:G
      Gene:
      SCRN2 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      3.

      rs1485309907 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:47838399 (GRCh38)
        17:45915765 (GRCh37)
        Canonical SPDI:
        NC_000017.11:47838398:C:T
        Gene:
        SCRN2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        5.

        rs1482108851 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          17:47838322 (GRCh38)
          17:45915688 (GRCh37)
          Canonical SPDI:
          NC_000017.11:47838321:T:C
          Gene:
          SCRN2 (Varview)
          Functional Consequence:
          coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          8.

          rs1478331228 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:47839547 (GRCh38)
            17:45916913 (GRCh37)
            Canonical SPDI:
            NC_000017.11:47839546:A:G
            Gene:
            SCRN2 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (GnomAD_exomes)
            G=0.000011/3 (TOPMED)
            HGVS:
            9.
            14.

            rs1471975341 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              17:47838363 (GRCh38)
              17:45915729 (GRCh37)
              Canonical SPDI:
              NC_000017.11:47838362:A:T
              Gene:
              SCRN2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
              HGVS:
              18.

              rs1468490594 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:47838288 (GRCh38)
                17:45915654 (GRCh37)
                Canonical SPDI:
                NC_000017.11:47838287:C:T
                Gene:
                SCRN2 (Varview)
                Functional Consequence:
                downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                19.

                rs1467119982 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:47838852 (GRCh38)
                  17:45916218 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:47838851:C:T
                  Gene:
                  SCRN2 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  20.

                  rs1466087375 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:47839538 (GRCh38)
                    17:45916904 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:47839537:T:C
                    Gene:
                    SCRN2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:

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