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Items: 1 to 20 of 3856

1.

rs1490989954 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    4:8587520 (GRCh38)
    4:8589247 (GRCh37)
    Canonical SPDI:
    NC_000004.12:8587519:T:C
    Gene:
    GPR78 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490497735 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:8587825 (GRCh38)
      4:8589552 (GRCh37)
      Canonical SPDI:
      NC_000004.12:8587824:C:T
      Gene:
      GPR78 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000035/1 (TOMMO)
      T=0.000038/10 (TOPMED)
      HGVS:
      3.

      rs1490387631 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        4:8581630 (GRCh38)
        4:8583357 (GRCh37)
        Canonical SPDI:
        NC_000004.12:8581629:G:A,NC_000004.12:8581629:G:T
        Gene:
        GPR78 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490267868 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          4:8578836 (GRCh38)
          4:8580563 (GRCh37)
          Canonical SPDI:
          NC_000004.12:8578835:G:T
          Gene:
          GPR78 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489987195 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            4:8581332 (GRCh38)
            4:8583059 (GRCh37)
            Canonical SPDI:
            NC_000004.12:8581331:G:A,NC_000004.12:8581331:G:T
            Gene:
            GPR78 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.00011/2 (TOMMO)
            HGVS:
            6.

            rs1489254410 has merged into rs1256222895 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TG>-,TGTG [Show Flanks]
              Chromosome:
              4:8588501 (GRCh38)
              4:8590228 (GRCh37)
              Canonical SPDI:
              NC_000004.12:8588491:GTGTGTGTGTG:GTGTGTGTG,NC_000004.12:8588491:GTGTGTGTGTG:GTGTGTGTGTGTG
              Gene:
              GPR78 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GTGTGTGTGTGTG=0./0 (ALFA)
              GT=0.00007/2 (TOMMO)
              HGVS:
              7.

              rs1489124902 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:8580449 (GRCh38)
                4:8582176 (GRCh37)
                Canonical SPDI:
                NC_000004.12:8580448:G:A
                Gene:
                GPR78 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488984308 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:8585862 (GRCh38)
                  4:8587589 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:8585861:C:T
                  Gene:
                  GPR78 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1488983858 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:8578590 (GRCh38)
                    4:8580317 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:8578589:A:G
                    Gene:
                    GPR78 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488848856 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:8584429 (GRCh38)
                      4:8586156 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:8584428:G:A
                      Gene:
                      GPR78 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488784074 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:8584142 (GRCh38)
                        4:8585869 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:8584141:G:A
                        Gene:
                        GPR78 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1488768355 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          4:8578644 (GRCh38)
                          4:8580371 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:8578643:GGGG:GGG
                          Gene:
                          GPR78 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GGG=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488707844 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            4:8586486 (GRCh38)
                            4:8588213 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:8586485:G:A,NC_000004.12:8586485:G:T
                            Gene:
                            GPR78 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1488607268 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              4:8586528 (GRCh38)
                              4:8588255 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:8586527:G:C
                              Gene:
                              GPR78 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1488331080 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                4:8585346 (GRCh38)
                                4:8587073 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:8585345:G:C
                                Gene:
                                GPR78 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1488049242 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:8580984 (GRCh38)
                                  4:8582711 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:8580983:T:C
                                  Gene:
                                  GPR78 (Varview)
                                  Functional Consequence:
                                  intron_variant,initiator_codon_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.0002/1 (ALFA)
                                  C=0.0002/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1487716272 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:8588812 (GRCh38)
                                    4:8590539 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:8588811:C:T
                                    Gene:
                                    GPR78 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000054/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000029/4 (GnomAD)
                                    T=0.000223/1 (Estonian)
                                    HGVS:
                                    18.

                                    rs1487711020 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      4:8581969 (GRCh38)
                                      4:8583696 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:8581968:C:G,NC_000004.12:8581968:C:T
                                      Gene:
                                      GPR78 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1487636572 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        4:8579555 (GRCh38)
                                        4:8581282 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:8579554:A:C
                                        Gene:
                                        GPR78 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487510373 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          4:8582681 (GRCh38)
                                          4:8584408 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:8582680:G:T
                                          Gene:
                                          GPR78 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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