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Links from Gene

Items: 1 to 20 of 2065

1.

rs1491502851 has merged into rs10562426 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
    Chromosome:
    3:45944208 (GRCh38)
    3:45985700 (GRCh37)
    Canonical SPDI:
    NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:45944196:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
    Gene:
    CXCR6 (Varview), FYCO1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGTGTGTGTGTGT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.221101/1096 (1000Genomes)
    HGVS:
    2.

    rs1490671584 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:45946833 (GRCh38)
      3:45988325 (GRCh37)
      Canonical SPDI:
      NC_000003.12:45946832:C:T
      Gene:
      CXCR6 (Varview), FYCO1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (GnomAD_exomes)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490591853 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        3:45939195 (GRCh38)
        3:45980687 (GRCh37)
        Canonical SPDI:
        NC_000003.12:45939194:C:T
        Gene:
        CXCR6 (Varview), FYCO1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1490337386 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:45943458 (GRCh38)
          3:45984950 (GRCh37)
          Canonical SPDI:
          NC_000003.12:45943457:T:C
          Gene:
          CXCR6 (Varview), FYCO1 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000132/2 (ALFA)
          C=0.000014/2 (GnomAD)
          C=0.000446/2 (Estonian)
          HGVS:
          5.

          rs1490133950 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            3:45941509 (GRCh38)
            3:45983001 (GRCh37)
            Canonical SPDI:
            NC_000003.12:45941508:A:C
            Gene:
            CXCR6 (Varview), FYCO1 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488622747 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              3:45940849 (GRCh38)
              3:45982341 (GRCh37)
              Canonical SPDI:
              NC_000003.12:45940848:C:G
              Gene:
              CXCR6 (Varview), FYCO1 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.0016/7 (ALFA)
              G=0.0016/7 (Estonian)
              HGVS:
              7.

              rs1487349974 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                3:45946779 (GRCh38)
                3:45988271 (GRCh37)
                Canonical SPDI:
                NC_000003.12:45946778:G:T
                Gene:
                CXCR6 (Varview), FYCO1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant,genic_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:
                8.

                rs1487312467 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  3:45947653 (GRCh38)
                  3:45989145 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:45947652:T:C
                  Gene:
                  CXCR6 (Varview), FYCO1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1486505599 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    3:45943623 (GRCh38)
                    3:45985115 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:45943622:G:T
                    Gene:
                    CXCR6 (Varview), FYCO1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_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:
                    10.

                    rs1486073805 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:45943451 (GRCh38)
                      3:45984943 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:45943450:G:A
                      Gene:
                      CXCR6 (Varview), FYCO1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.00003/8 (TOPMED)
                      HGVS:
                      11.

                      rs1486001732 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:45948398 (GRCh38)
                        3:45989890 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:45948397:A:G
                        Gene:
                        CXCR6 (Varview), FYCO1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1484321036 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          3:45944182 (GRCh38)
                          3:45985674 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:45944181:G:C
                          Gene:
                          CXCR6 (Varview), FYCO1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000045/12 (TOPMED)
                          C=0.000059/8 (GnomAD)
                          HGVS:
                          13.

                          rs1484221599 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:45942024 (GRCh38)
                            3:45983516 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:45942023:T:C
                            Gene:
                            CXCR6 (Varview), FYCO1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1482837242 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:45948824 (GRCh38)
                              3:45990316 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:45948823:T:C
                              Gene:
                              CXCR6 (Varview), FYCO1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000011/3 (TOPMED)
                              C=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1482316686 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                3:45938772 (GRCh38)
                                3:45980264 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:45938771:G:A,NC_000003.12:45938771:G:T
                                Gene:
                                FYCO1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000019/5 (TOPMED)
                                T=0.000035/1 (TOMMO)
                                A=0.000043/6 (GnomAD)
                                HGVS:
                                16.

                                rs1482062927 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:45943786 (GRCh38)
                                  3:45985278 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:45943785:C:T
                                  Gene:
                                  CXCR6 (Varview), FYCO1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481257962 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:45947398 (GRCh38)
                                    3:45988890 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:45947397:T:C
                                    Gene:
                                    CXCR6 (Varview), FYCO1 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1481153346 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:45944600 (GRCh38)
                                      3:45986092 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:45944599:G:A
                                      Gene:
                                      CXCR6 (Varview), FYCO1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000142/2 (ALFA)
                                      A=0.000035/1 (TOMMO)
                                      A=0.000049/13 (TOPMED)
                                      A=0.0001/14 (GnomAD)
                                      A=0.000342/1 (KOREAN)
                                      A=0.000546/1 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1480967448 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:45946786 (GRCh38)
                                        3:45988278 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:45946785:G:A
                                        Gene:
                                        CXCR6 (Varview), FYCO1 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                        HGVS:
                                        20.

                                        rs1480808703 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          3:45939370 (GRCh38)
                                          3:45980862 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:45939369:A:T
                                          Gene:
                                          CXCR6 (Varview), FYCO1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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