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Links from Gene

Items: 1 to 20 of 1633

1.

rs1490979613 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:104940633 (GRCh38)
    6:105388508 (GRCh37)
    Canonical SPDI:
    NC_000006.12:104940632:C:T
    Gene:
    LIN28B (Varview), LIN28B-AS1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1490622465 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      6:104936512 (GRCh38)
      6:105384387 (GRCh37)
      Canonical SPDI:
      NC_000006.12:104936511:A:T
      Gene:
      LIN28B (Varview), LIN28B-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000014/2 (GnomAD)
      T=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1490438200 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:104937198 (GRCh38)
        6:105385073 (GRCh37)
        Canonical SPDI:
        NC_000006.12:104937197:G:A
        Gene:
        LIN28B (Varview), LIN28B-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1489950386 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:104936129 (GRCh38)
          6:105384004 (GRCh37)
          Canonical SPDI:
          NC_000006.12:104936128:C:T
          Gene:
          LIN28B (Varview), LIN28B-AS1 (Varview)
          Functional Consequence:
          downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          T=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1488868531 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:104942268 (GRCh38)
            6:105390143 (GRCh37)
            Canonical SPDI:
            NC_000006.12:104942267:T:C
            Gene:
            LIN28B (Varview), LIN28B-AS1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1488757536 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:104939409 (GRCh38)
              6:105387284 (GRCh37)
              Canonical SPDI:
              NC_000006.12:104939408:T:C
              Gene:
              LIN28B (Varview), LIN28B-AS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000054/1 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.00005/7 (GnomAD)
              C=0.000223/1 (Estonian)
              HGVS:
              7.

              rs1488428630 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:104942135 (GRCh38)
                6:105390010 (GRCh37)
                Canonical SPDI:
                NC_000006.12:104942134:T:C
                Gene:
                LIN28B (Varview), LIN28B-AS1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1488326755 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  6:104941455 (GRCh38)
                  6:105389330 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:104941454:C:G,NC_000006.12:104941454:C:T
                  Gene:
                  LIN28B (Varview), LIN28B-AS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  G=0.02523/67 (KOREAN)
                  HGVS:
                  9.

                  rs1488096123 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    6:104940437 (GRCh38)
                    6:105388312 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:104940436:A:G
                    Gene:
                    LIN28B (Varview), LIN28B-AS1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1487915838 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      6:104941425 (GRCh38)
                      6:105389300 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:104941424:C:A,NC_000006.12:104941424:C:G
                      Gene:
                      LIN28B (Varview), LIN28B-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.00016/1 (1000Genomes)
                      HGVS:
                      11.

                      rs1487812640 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:104939390 (GRCh38)
                        6:105387265 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:104939389:G:A
                        Gene:
                        LIN28B (Varview), LIN28B-AS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1487667053 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          6:104940816 (GRCh38)
                          6:105388691 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:104940815:T:C,NC_000006.12:104940815:T:G
                          Gene:
                          LIN28B (Varview), LIN28B-AS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1486982537 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:104936711 (GRCh38)
                            6:105384586 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:104936710:C:T
                            Gene:
                            LIN28B (Varview), LIN28B-AS1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1484999334 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              6:104936992 (GRCh38)
                              6:105384867 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:104936991:A:G,NC_000006.12:104936991:A:T
                              Gene:
                              LIN28B (Varview), LIN28B-AS1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1484825738 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:104939370 (GRCh38)
                                6:105387245 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:104939369:C:T
                                Gene:
                                LIN28B (Varview), LIN28B-AS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1484392633 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:104940265 (GRCh38)
                                  6:105388140 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:104940264:C:T
                                  Gene:
                                  LIN28B (Varview), LIN28B-AS1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,upstream_transcript_variant,intron_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.

                                  rs1484261431 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    6:104937350 (GRCh38)
                                    6:105385225 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:104937349:C:T
                                    Gene:
                                    LIN28B (Varview), LIN28B-AS1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000318/5 (TOMMO)
                                    T=0.002396/7 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1483743167 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      6:104941787 (GRCh38)
                                      6:105389662 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:104941786:A:T
                                      Gene:
                                      LIN28B (Varview), LIN28B-AS1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483382227 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:104938563 (GRCh38)
                                        6:105386438 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:104938562:C:T
                                        Gene:
                                        LIN28B (Varview), LIN28B-AS1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1483144720 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C,T [Show Flanks]
                                          Chromosome:
                                          6:104941470 (GRCh38)
                                          6:105389345 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:104941469:G:A,NC_000006.12:104941469:G:C,NC_000006.12:104941469:G:T
                                          Gene:
                                          LIN28B (Varview), LIN28B-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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