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Items: 1 to 20 of 245

1.

rs1487295797 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    18:908272 (GRCh38)
    18:908273 (GRCh37)
    Canonical SPDI:
    NC_000018.10:908271:G:A
    Gene:
    ADCYAP1 (Varview), LOC124904340 (Varview)
    Functional Consequence:
    missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1482590642 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      18:908280 (GRCh38)
      18:908281 (GRCh37)
      Canonical SPDI:
      NC_000018.10:908279:G:A
      Gene:
      ADCYAP1 (Varview), LOC124904340 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1478932684 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        18:907759 (GRCh38)
        18:907760 (GRCh37)
        Canonical SPDI:
        NC_000018.10:907758:G:T
        Gene:
        ADCYAP1 (Varview), LOC124904340 (Varview)
        Functional Consequence:
        missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000019/5 (TOPMED)
        HGVS:
        4.
        5.

        rs1469825824 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          18:909562 (GRCh38)
          18:909563 (GRCh37)
          Canonical SPDI:
          NC_000018.10:909561:A:T
          Gene:
          ADCYAP1 (Varview)
          Functional Consequence:
          missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          6.

          rs1465336094 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            18:908337 (GRCh38)
            18:908338 (GRCh37)
            Canonical SPDI:
            NC_000018.10:908336:G:A,NC_000018.10:908336:G:T
            Gene:
            ADCYAP1 (Varview), LOC124904340 (Varview)
            Functional Consequence:
            2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            8.

            rs1463848995 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              18:907756 (GRCh38)
              18:907757 (GRCh37)
              Canonical SPDI:
              NC_000018.10:907755:G:T
              Gene:
              ADCYAP1 (Varview), LOC124904340 (Varview)
              Functional Consequence:
              2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              10.

              rs1459843569 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                18:909501 (GRCh38)
                18:909502 (GRCh37)
                Canonical SPDI:
                NC_000018.10:909500:T:A
                Gene:
                ADCYAP1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                11.

                rs1450856045 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  18:909557 (GRCh38)
                  18:909558 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:909556:G:A
                  Gene:
                  ADCYAP1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  12.

                  rs1442495806 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    18:909619 (GRCh38)
                    18:909620 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:909618:G:T
                    Gene:
                    ADCYAP1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000015/4 (TOPMED)
                    HGVS:
                    14.

                    rs1439804811 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      18:905489 (GRCh38)
                      18:905490 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:905488:G:T
                      Gene:
                      ADCYAP1 (Varview), LOC124904340 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      15.

                      rs1437941938 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        18:907715 (GRCh38)
                        18:907716 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:907714:C:T
                        Gene:
                        ADCYAP1 (Varview), LOC124904340 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by cluster
                        HGVS:
                        16.

                        rs1434786631 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          18:905465 (GRCh38)
                          18:905466 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:905464:G:A
                          Gene:
                          ADCYAP1 (Varview), LOC124904340 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000111/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          17.

                          rs1430662505 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GCG>- [Show Flanks]
                            Chromosome:
                            18:909463 (GRCh38)
                            18:909464 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:909454:CGGCGGCGGCG:CGGCGGCG
                            Gene:
                            ADCYAP1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,inframe_deletion,downstream_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CGGCGGCG=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            19.
                            20.

                            rs1417759910 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              18:907688 (GRCh38)
                              18:907689 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:907687:G:A
                              Gene:
                              ADCYAP1 (Varview), LOC124904340 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                              HGVS:

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