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Links from Gene

Items: 1 to 20 of 609

1.

rs1490702943 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    3:171106183 (GRCh38)
    3:170823972 (GRCh37)
    Canonical SPDI:
    NC_000003.12:171106182:C:G
    Gene:
    TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
    Functional Consequence:
    downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000011/3 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1489775883 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      3:171107414 (GRCh38)
      3:170825203 (GRCh37)
      Canonical SPDI:
      NC_000003.12:171107413:CC:C
      Gene:
      TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      CC=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1488469722 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        3:171107244 (GRCh38)
        3:170825033 (GRCh37)
        Canonical SPDI:
        NC_000003.12:171107243:A:G
        Gene:
        TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        G=0.00006/1 (TOMMO)
        HGVS:
        4.

        rs1487556531 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:171108384 (GRCh38)
          3:170826173 (GRCh37)
          Canonical SPDI:
          NC_000003.12:171108383:A:G
          Gene:
          TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000066/1 (ALFA)
          G=0.000014/2 (GnomAD)
          G=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1486802523 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:171107373 (GRCh38)
            3:170825162 (GRCh37)
            Canonical SPDI:
            NC_000003.12:171107372:T:C
            Gene:
            TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000224/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1485577239 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:171108540 (GRCh38)
              3:170826329 (GRCh37)
              Canonical SPDI:
              NC_000003.12:171108539:C:T
              Gene:
              TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1485079022 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:171108197 (GRCh38)
                3:170825986 (GRCh37)
                Canonical SPDI:
                NC_000003.12:171108196:G:A
                Gene:
                TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_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:
                8.

                rs1484093068 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  3:171107728 (GRCh38)
                  3:170825517 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:171107727:T:C
                  Gene:
                  TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_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.

                  rs1483804009 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AG>- [Show Flanks]
                    Chromosome:
                    3:171108180 (GRCh38)
                    3:170825969 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:171108177:AGAG:AG
                    Gene:
                    TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    -=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1483611012 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      3:171107630 (GRCh38)
                      3:170825419 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:171107629:AAAA:AAA
                      Gene:
                      TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AAA=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1481623182 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        3:171106562 (GRCh38)
                        3:170824351 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:171106561:A:T
                        Gene:
                        TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1481092504 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:171106304 (GRCh38)
                          3:170824093 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:171106303:T:C
                          Gene:
                          TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1480737037 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            3:171107068 (GRCh38)
                            3:170824857 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:171107067:C:G
                            Gene:
                            TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000447/2 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000446/2 (Estonian)
                            HGVS:
                            14.

                            rs1480188919 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ATGG>- [Show Flanks]
                              Chromosome:
                              3:171108753 (GRCh38)
                              3:170826542 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:171108751:GATGG:G
                              Gene:
                              TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1478303410 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:171106947 (GRCh38)
                                3:170824736 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:171106946:C:T
                                Gene:
                                TNIK (Varview), MIR569 (Varview), LOC105374216 (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=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1478113534 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  3:171107136 (GRCh38)
                                  3:170824925 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:171107135:A:C
                                  Gene:
                                  TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1474243671 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:171108190 (GRCh38)
                                    3:170825979 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:171108189:A:G
                                    Gene:
                                    TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1472599212 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      3:171107389 (GRCh38)
                                      3:170825179 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:171107389:TTT:TTTT
                                      Gene:
                                      TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTT=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1471614511 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:171106850 (GRCh38)
                                        3:170824639 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:171106849:A:G
                                        Gene:
                                        TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000318/5 (TOMMO)
                                        G=0.000342/1 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1470346261 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          3:171106169 (GRCh38)
                                          3:170823958 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:171106168:C:G
                                          Gene:
                                          TNIK (Varview), MIR569 (Varview), LOC105374216 (Varview)
                                          Functional Consequence:
                                          intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:

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