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Items: 1 to 20 of 1472

1.

rs1490297700 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:14031724 (GRCh38)
    19:14142536 (GRCh37)
    Canonical SPDI:
    NC_000019.10:14031723:A:G
    Gene:
    IL27RA (Varview), RLN3 (Varview)
    Functional Consequence:
    2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1489747148 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G,T [Show Flanks]
      Chromosome:
      19:14026198 (GRCh38)
      19:14137010 (GRCh37)
      Canonical SPDI:
      NC_000019.10:14026197:C:A,NC_000019.10:14026197:C:G,NC_000019.10:14026197:C:T
      Gene:
      RLN3 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      T=0.000036/5 (GnomAD)
      HGVS:
      3.

      rs1489501817 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        19:14029812 (GRCh38)
        19:14140624 (GRCh37)
        Canonical SPDI:
        NC_000019.10:14029811:T:A,NC_000019.10:14029811:T:C
        Gene:
        IL27RA (Varview), RLN3 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1488765521 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:14027272 (GRCh38)
          19:14138084 (GRCh37)
          Canonical SPDI:
          NC_000019.10:14027271:C:T
          Gene:
          RLN3 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000019/5 (TOPMED)
          T=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs1486905979 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            19:14031784 (GRCh38)
            19:14142596 (GRCh37)
            Canonical SPDI:
            NC_000019.10:14031783:C:A
            Gene:
            IL27RA (Varview), RLN3 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000014/2 (GnomAD)
            A=0.000019/5 (TOPMED)
            HGVS:
            6.

            rs1486631905 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:14027622 (GRCh38)
              19:14138434 (GRCh37)
              Canonical SPDI:
              NC_000019.10:14027621:G:A
              Gene:
              RLN3 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1486185882 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->GGAGGCCCCCACCCCC [Show Flanks]
                Chromosome:
                19:14031630 (GRCh38)
                19:14142443 (GRCh37)
                Canonical SPDI:
                NC_000019.10:14031630:CGGAGGCCCCCACCCCC:CGGAGGCCCCCACCCCCGGAGGCCCCCACCCCC
                Gene:
                IL27RA (Varview), RLN3 (Varview)
                Functional Consequence:
                2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                CGGAGGCCCCCACCCCCGGAGGCCCCCACCCCC=0./0 (ALFA)
                CGGAGGCCCCCACCCC=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1486078394 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  19:14026617 (GRCh38)
                  19:14137429 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:14026616:G:C
                  Gene:
                  RLN3 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_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:
                  9.

                  rs1486070677 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    19:14030512 (GRCh38)
                    19:14141324 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:14030511:G:C
                    Gene:
                    IL27RA (Varview), RLN3 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485033677 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      19:14027506 (GRCh38)
                      19:14138318 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:14027505:A:C
                      Gene:
                      RLN3 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1485000629 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:14032004 (GRCh38)
                        19:14142816 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:14032003:G:A
                        Gene:
                        IL27RA (Varview), RLN3 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,intron_variant,500B_downstream_variant
                        HGVS:
                        12.

                        rs1484998933 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:14028041 (GRCh38)
                          19:14138853 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:14028040:G:A
                          Gene:
                          RLN3 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,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:
                          13.

                          rs1484970444 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            19:14030333 (GRCh38)
                            19:14141145 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:14030332:T:A
                            Gene:
                            IL27RA (Varview), RLN3 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000007/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1484364049 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              19:14027140 (GRCh38)
                              19:14137952 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:14027139:G:C
                              Gene:
                              RLN3 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000019/5 (TOPMED)
                              C=0.000312/2 (1000Genomes)
                              HGVS:
                              15.

                              rs1484031122 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                19:14029561 (GRCh38)
                                19:14140373 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:14029560:G:C
                                Gene:
                                RLN3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1483402371 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  19:14030300 (GRCh38)
                                  19:14141112 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:14030299:G:T
                                  Gene:
                                  IL27RA (Varview), RLN3 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1482487537 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:14028896 (GRCh38)
                                    19:14139708 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:14028895:T:C
                                    Gene:
                                    RLN3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482482515 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:14026256 (GRCh38)
                                      19:14137068 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:14026255:G:A
                                      Gene:
                                      RLN3 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481052676 has merged into rs58482695 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ATTATTATTATTATT>-,ATT,ATTATT,ATTATTATT,ATTATTATTATT,ATTATTATTATTATTATT,ATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATTATTATTATT [Show Flanks]
                                        Chromosome:
                                        19:14029828 (GRCh38)
                                        19:14140640 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT
                                        Gene:
                                        IL27RA (Varview), RLN3 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        ATTATTATTATTATTATTATTATT=0./0 (ALFA)
                                        HGVS:
                                        NC_000019.10:g.14029807ATT[7], NC_000019.10:g.14029807ATT[8], NC_000019.10:g.14029807ATT[9], NC_000019.10:g.14029807ATT[10], NC_000019.10:g.14029807ATT[11], NC_000019.10:g.14029807ATT[13], NC_000019.10:g.14029807ATT[14], NC_000019.10:g.14029807ATT[15], NC_000019.10:g.14029807ATT[16], NC_000019.10:g.14029807ATT[17], NC_000019.10:g.14029807ATT[18], NC_000019.10:g.14029807ATT[19], NC_000019.10:g.14029807ATT[20], NC_000019.9:g.14140619ATT[7], NC_000019.9:g.14140619ATT[8], NC_000019.9:g.14140619ATT[9], NC_000019.9:g.14140619ATT[10], NC_000019.9:g.14140619ATT[11], NC_000019.9:g.14140619ATT[13], NC_000019.9:g.14140619ATT[14], NC_000019.9:g.14140619ATT[15], NC_000019.9:g.14140619ATT[16], NC_000019.9:g.14140619ATT[17], NC_000019.9:g.14140619ATT[18], NC_000019.9:g.14140619ATT[19], NC_000019.9:g.14140619ATT[20], NW_021160022.1:g.241648ATT[7], NW_021160022.1:g.241648ATT[8], NW_021160022.1:g.241648ATT[9], NW_021160022.1:g.241648ATT[10], NW_021160022.1:g.241648ATT[11], NW_021160022.1:g.241648ATT[13], NW_021160022.1:g.241648ATT[14], NW_021160022.1:g.241648ATT[15], NW_021160022.1:g.241648ATT[16], NW_021160022.1:g.241648ATT[17], NW_021160022.1:g.241648ATT[18], NW_021160022.1:g.241648ATT[19], NW_021160022.1:g.241648ATT[20]
                                        20.

                                        rs1479368059 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          19:14030656 (GRCh38)
                                          19:14141468 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:14030655:T:G
                                          Gene:
                                          IL27RA (Varview), RLN3 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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