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Items: 1 to 20 of 2135

1.

rs1490616086 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C,T [Show Flanks]
    Chromosome:
    22:30246486 (GRCh38)
    22:30642475 (GRCh37)
    Canonical SPDI:
    NC_000022.11:30246485:G:C,NC_000022.11:30246485:G:T
    Gene:
    LIF (Varview), LIF-AS2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490358218 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      22:30245954 (GRCh38)
      22:30641943 (GRCh37)
      Canonical SPDI:
      NC_000022.11:30245953:A:G
      Gene:
      LIF (Varview), LIF-AS2 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490245633 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        22:30246464 (GRCh38)
        22:30642453 (GRCh37)
        Canonical SPDI:
        NC_000022.11:30246463:C:T
        Gene:
        LIF (Varview), LIF-AS2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1489885936 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          22:30246699 (GRCh38)
          22:30642688 (GRCh37)
          Canonical SPDI:
          NC_000022.11:30246698:G:A,NC_000022.11:30246698:G:T
          Gene:
          LIF (Varview), LIF-AS2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          T=0.000006/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1489434369 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            22:30246791 (GRCh38)
            22:30642780 (GRCh37)
            Canonical SPDI:
            NC_000022.11:30246790:C:G,NC_000022.11:30246790:C:T
            Gene:
            LIF (Varview), LIF-AS2 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1489431612 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              22:30245376 (GRCh38)
              22:30641365 (GRCh37)
              Canonical SPDI:
              NC_000022.11:30245375:G:A
              Gene:
              LIF (Varview), LIF-AS2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1489201526 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                22:30241724 (GRCh38)
                22:30637713 (GRCh37)
                Canonical SPDI:
                NC_000022.11:30241723:C:A
                Gene:
                LIF (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489039203 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  22:30243957 (GRCh38)
                  22:30639946 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:30243956:C:G
                  Gene:
                  LIF (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488837948 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    22:30240950 (GRCh38)
                    22:30636939 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:30240949:T:C
                    Gene:
                    LIF (Varview), LIF-AS1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488515870 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      22:30243279 (GRCh38)
                      22:30639268 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:30243278:C:T
                      Gene:
                      LIF (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0./0 (GnomAD)
                      HGVS:
                      11.

                      rs1488484689 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        22:30244780 (GRCh38)
                        22:30640769 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:30244779:C:T
                        Gene:
                        LIF (Varview), LIF-AS2 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1488425906 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:30248327 (GRCh38)
                          22:30644316 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:30248326:G:A
                          Gene:
                          LIF (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          A=0.00006/1 (TOMMO)
                          HGVS:
                          13.

                          rs1487838033 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            22:30240885 (GRCh38)
                            22:30636874 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:30240884:A:C,NC_000022.11:30240884:A:G
                            Gene:
                            LIF (Varview), LIF-AS1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1487568830 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:30242018 (GRCh38)
                              22:30638007 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:30242017:G:A
                              Gene:
                              LIF (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487479972 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:30244408 (GRCh38)
                                22:30640397 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:30244407:G:A
                                Gene:
                                LIF (Varview), LIF-AS2 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1487414080 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  22:30247392 (GRCh38)
                                  22:30643381 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:30247391:C:T
                                  Gene:
                                  LIF (Varview), LIF-AS2 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487093302 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    22:30243691 (GRCh38)
                                    22:30639680 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:30243690:T:C
                                    Gene:
                                    LIF (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1486721054 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      22:30243587 (GRCh38)
                                      22:30639576 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:30243586:G:C
                                      Gene:
                                      LIF (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486261612 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        22:30246025 (GRCh38)
                                        22:30642014 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:30246024:C:A,NC_000022.11:30246024:C:G
                                        Gene:
                                        LIF (Varview), LIF-AS2 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000061/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        A=0.000223/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1486162978 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          22:30246307 (GRCh38)
                                          22:30642296 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:30246306:G:A
                                          Gene:
                                          LIF (Varview), LIF-AS2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_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:

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