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Links from Protein

Items: 1 to 20 of 617

1.
3.

rs1489969445 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:18435098 (GRCh38)
    19:18545908 (GRCh37)
    Canonical SPDI:
    NC_000019.10:18435097:G:A
    Gene:
    ISYNA1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000021/3 (GnomAD)
    HGVS:
    4.
    5.

    rs1488252908 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CTC>- [Show Flanks]
      Chromosome:
      19:18434937 (GRCh38)
      19:18545747 (GRCh37)
      Canonical SPDI:
      NC_000019.10:18434933:CTCCTC:CTC
      Gene:
      ISYNA1 (Varview), SSBP4 (Varview)
      Functional Consequence:
      inframe_deletion,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      CTCCTC=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      6.

      rs1487634323 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        19:18435631 (GRCh38)
        19:18546441 (GRCh37)
        Canonical SPDI:
        NC_000019.10:18435630:G:C
        Gene:
        ISYNA1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000019/5 (TOPMED)
        HGVS:
        7.
        8.
        9.

        rs1486065078 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:18436419 (GRCh38)
          19:18547229 (GRCh37)
          Canonical SPDI:
          NC_000019.10:18436418:T:C
          Gene:
          ISYNA1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          C=0.000071/1 (TOMMO)
          HGVS:
          10.

          rs1485165297 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:18437024 (GRCh38)
            19:18547834 (GRCh37)
            Canonical SPDI:
            NC_000019.10:18437023:G:A
            Gene:
            ISYNA1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
            HGVS:
            13.
            14.

            rs1483817264 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:18436725 (GRCh38)
              19:18547535 (GRCh37)
              Canonical SPDI:
              NC_000019.10:18436724:C:T
              Gene:
              ISYNA1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              15.
              16.

              rs1482636550 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:18435814 (GRCh38)
                19:18546624 (GRCh37)
                Canonical SPDI:
                NC_000019.10:18435813:G:A
                Gene:
                ISYNA1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000111/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                17.
                18.
                19.

                rs1480186027 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:18435313 (GRCh38)
                  19:18546123 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:18435312:C:T
                  Gene:
                  ISYNA1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  20.

                  rs1480088568 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:18437876 (GRCh38)
                    19:18548686 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:18437875:T:C
                    Gene:
                    ISYNA1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000011/3 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:

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