U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 141

1.

rs1489114936 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    19:35908172 (GRCh38)
    19:36399074 (GRCh37)
    Canonical SPDI:
    NC_000019.10:35908171:T:G
    Gene:
    TYROBP (Varview)
    Functional Consequence:
    synonymous_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:
    3.

    rs1466674452 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:35907259 (GRCh38)
      19:36398161 (GRCh37)
      Canonical SPDI:
      NC_000019.10:35907258:T:C
      Gene:
      TYROBP (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      4.

      rs1463520757 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:35907536 (GRCh38)
        19:36398438 (GRCh37)
        Canonical SPDI:
        NC_000019.10:35907535:C:T
        Gene:
        TYROBP (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        T=0.000106/2 (TOMMO)
        HGVS:
        5.

        rs1456694741 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:35908206 (GRCh38)
          19:36399108 (GRCh37)
          Canonical SPDI:
          NC_000019.10:35908205:C:T
          Gene:
          TYROBP (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000008/2 (GnomAD_exomes)
          HGVS:
          6.

          rs1451728374 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AGGAGC>- [Show Flanks]
            Chromosome:
            19:35908197 (GRCh38)
            19:36399099 (GRCh37)
            Canonical SPDI:
            NC_000019.10:35908188:GCAGGAGCAGGAGC:GCAGGAGC
            Gene:
            TYROBP (Varview)
            Functional Consequence:
            inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GCAGGAGC=0.000043/1 (ALFA)
            -=0.000008/2 (GnomAD_exomes)
            -=0.000011/3 (TOPMED)
            HGVS:
            7.

            rs1438806985 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:35908168 (GRCh38)
              19:36399070 (GRCh37)
              Canonical SPDI:
              NC_000019.10:35908167:C:T
              Gene:
              TYROBP (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000447/2 (ALFA)
              T=0.000014/2 (GnomAD)
              T=0.000446/2 (Estonian)
              HGVS:
              8.

              rs1438043311 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                19:35904589 (GRCh38)
                19:36395491 (GRCh37)
                Canonical SPDI:
                NC_000019.10:35904588:G:T
                Gene:
                TYROBP (Varview), HCST (Varview)
                Functional Consequence:
                non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_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:
                9.

                rs1434248321 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GT>- [Show Flanks]
                  Chromosome:
                  19:35907250 (GRCh38)
                  19:36398152 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:35907248:TGT:T
                  Gene:
                  TYROBP (Varview)
                  Functional Consequence:
                  frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  10.

                  rs1428069263 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:35904570 (GRCh38)
                    19:36395472 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:35904569:C:T
                    Gene:
                    TYROBP (Varview), HCST (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,500B_downstream_variant,terminator_codon_variant,downstream_transcript_variant
                    HGVS:
                    11.

                    rs1422094454 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:35908198 (GRCh38)
                      19:36399100 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:35908197:G:A
                      Gene:
                      TYROBP (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      12.

                      rs1411691787 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:35907753 (GRCh38)
                        19:36398655 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:35907752:G:A
                        Gene:
                        TYROBP (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1409737428 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:35908225 (GRCh38)
                          19:36399127 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:35908224:C:G
                          Gene:
                          TYROBP (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          15.

                          rs1401978925 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:35908184 (GRCh38)
                            19:36399086 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:35908183:G:A
                            Gene:
                            TYROBP (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            16.

                            rs1393401608 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:35904609 (GRCh38)
                              19:36395511 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:35904608:A:G
                              Gene:
                              TYROBP (Varview), HCST (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              17.
                              18.

                              rs1379801416 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:35907735 (GRCh38)
                                19:36398637 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:35907734:T:C
                                Gene:
                                TYROBP (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (GnomAD_exomes)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                19.

                                rs1374419476 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  19:35907463 (GRCh38)
                                  19:36398365 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:35907462:C:A
                                  Gene:
                                  TYROBP (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  20.

                                  rs1366189959 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    19:35907520 (GRCh38)
                                    19:36398422 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:35907519:A:C
                                    Gene:
                                    TYROBP (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    Display Settings:

                                    Format
                                    Items per page
                                    Sort by

                                    Send to:

                                    Choose Destination

                                    Supplemental Content

                                    Find related data

                                    Recent activity

                                    Your browsing activity is empty.

                                    Activity recording is turned off.

                                    Turn recording back on

                                    See more...