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Links from Protein

Items: 1 to 20 of 323

1.

rs1485703066 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    19:43626270 (GRCh38)
    19:44130422 (GRCh37)
    Canonical SPDI:
    NC_000019.10:43626269:T:A
    Gene:
    CADM4 (Varview), LOC105372411 (Varview)
    Functional Consequence:
    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    A=0.000008/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1481248147 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,T [Show Flanks]
      Chromosome:
      19:43625092 (GRCh38)
      19:44129244 (GRCh37)
      Canonical SPDI:
      NC_000019.10:43625091:A:C,NC_000019.10:43625091:A:T
      Gene:
      CADM4 (Varview), LOC105372411 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1480085325 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        19:43623397 (GRCh38)
        19:44127549 (GRCh37)
        Canonical SPDI:
        NC_000019.10:43623396:C:G
        Gene:
        CADM4 (Varview), LOC105372411 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1475236196 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:43625968 (GRCh38)
          19:44130120 (GRCh37)
          Canonical SPDI:
          NC_000019.10:43625967:G:A
          Gene:
          CADM4 (Varview), LOC105372411 (Varview)
          Functional Consequence:
          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1474322407 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:43624183 (GRCh38)
            19:44128335 (GRCh37)
            Canonical SPDI:
            NC_000019.10:43624182:G:A
            Gene:
            CADM4 (Varview), LOC105372411 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1474262919 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              19:43625199 (GRCh38)
              19:44129351 (GRCh37)
              Canonical SPDI:
              NC_000019.10:43625198:C:A
              Gene:
              CADM4 (Varview), LOC105372411 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              8.

              rs1474187969 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:43626914 (GRCh38)
                19:44131066 (GRCh37)
                Canonical SPDI:
                NC_000019.10:43626913:G:A
                Gene:
                CADM4 (Varview), LOC105372411 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                A=0.000013/3 (GnomAD_exomes)
                HGVS:
                9.

                rs1469891113 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:43625113 (GRCh38)
                  19:44129265 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:43625112:C:T
                  Gene:
                  CADM4 (Varview), LOC105372411 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000015/4 (TOPMED)
                  HGVS:
                  10.

                  rs1469515367 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    19:43625975 (GRCh38)
                    19:44130127 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:43625974:A:T
                    Gene:
                    CADM4 (Varview), LOC105372411 (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
                    HGVS:
                    11.
                    12.

                    rs1467055937 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:43626836 (GRCh38)
                      19:44130988 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:43626835:C:T
                      Gene:
                      CADM4 (Varview), LOC105372411 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      13.

                      rs1466678257 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:43624176 (GRCh38)
                        19:44128328 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:43624175:A:G
                        Gene:
                        CADM4 (Varview), LOC105372411 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        G=0.000021/3 (GnomAD)
                        HGVS:
                        14.

                        rs1461519411 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          19:43626126 (GRCh38)
                          19:44130278 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:43626125:T:C
                          Gene:
                          CADM4 (Varview), LOC105372411 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          15.

                          rs1454599837 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            19:43624233 (GRCh38)
                            19:44128385 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:43624232:G:T
                            Gene:
                            CADM4 (Varview), LOC105372411 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            16.

                            rs1453481932 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:43626825 (GRCh38)
                              19:44130977 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:43626824:G:A
                              Gene:
                              CADM4 (Varview), LOC105372411 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000111/1 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              17.

                              rs1453052315 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                19:43625224 (GRCh38)
                                19:44129376 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:43625223:C:A
                                Gene:
                                CADM4 (Varview), LOC105372411 (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant,genic_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:
                                18.

                                rs1451041061 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:43627681 (GRCh38)
                                  19:44131833 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:43627680:G:A
                                  Gene:
                                  CADM4 (Varview), LOC105372411 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000019/5 (TOPMED)
                                  HGVS:
                                  19.

                                  rs1448604705 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    19:43625093 (GRCh38)
                                    19:44129245 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:43625092:C:A
                                    Gene:
                                    CADM4 (Varview), LOC105372411 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    20.

                                    rs1441288685 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:43626862 (GRCh38)
                                      19:44131014 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:43626861:C:T
                                      Gene:
                                      CADM4 (Varview), LOC105372411 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:

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