U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1000

1.

rs1491272824 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AAAAGC [Show Flanks]
    Chromosome:
    1:12824125 (GRCh38)
    1:12883984 (GRCh37)
    Canonical SPDI:
    NC_000001.11:12824125:CAAAAGC:CAAAAGCAAAAGC
    Gene:
    PRAMEF11 (Varview), LINC01784 (Varview)
    Functional Consequence:
    500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
    Validated:
    by cluster
    HGVS:
    2.

    rs1489625228 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      1:12822208 (GRCh38)
      1:12882070 (GRCh37)
      Canonical SPDI:
      NC_000001.11:12822207:T:A,NC_000001.11:12822207:T:C
      Gene:
      LINC01784 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489231252 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        1:12822286 (GRCh38)
        1:12882148 (GRCh37)
        Canonical SPDI:
        NC_000001.11:12822285:T:A
        Gene:
        LINC01784 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000022/3 (GnomAD)
        A=0.00003/8 (TOPMED)
        HGVS:
        4.

        rs1489122977 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:12825170 (GRCh38)
          1:12885028 (GRCh37)
          Canonical SPDI:
          NC_000001.11:12825169:G:A
          Gene:
          PRAMEF11 (Varview), LINC01784 (Varview)
          Functional Consequence:
          synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1488794921 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:12824971 (GRCh38)
            1:12884829 (GRCh37)
            Canonical SPDI:
            NC_000001.11:12824970:C:T
            Gene:
            PRAMEF11 (Varview), LINC01784 (Varview)
            Functional Consequence:
            missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1488501456 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:12823105 (GRCh38)
              1:12882968 (GRCh37)
              Canonical SPDI:
              NC_000001.11:12823104:C:T
              Gene:
              LINC01784 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              T=0.000537/9 (TOMMO)
              T=0.00138/4 (KOREAN)
              HGVS:
              7.

              rs1488188447 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                1:12822902 (GRCh38)
                1:12882765 (GRCh37)
                Canonical SPDI:
                NC_000001.11:12822901:A:T
                Gene:
                LINC01784 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000015/2 (GnomAD)
                T=0.000535/9 (TOMMO)
                T=0.00583/17 (KOREAN)
                HGVS:
                8.

                rs1488177546 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  1:12823406 (GRCh38)
                  1:12883269 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:12823405:T:G
                  Gene:
                  LINC01784 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1488029915 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:12823183 (GRCh38)
                    1:12883046 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:12823182:G:C
                    Gene:
                    LINC01784 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1487664926 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G,T [Show Flanks]
                      Chromosome:
                      1:12822742 (GRCh38)
                      1:12882605 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:12822741:A:C,NC_000001.11:12822741:A:G,NC_000001.11:12822741:A:T
                      Gene:
                      LINC01784 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      T=0.000312/2 (1000Genomes)
                      HGVS:
                      11.

                      rs1487427865 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:12823521 (GRCh38)
                        1:12883384 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:12823520:A:G
                        Gene:
                        LINC01784 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000057/15 (TOPMED)
                        G=0.000072/10 (GnomAD)
                        HGVS:
                        12.

                        rs1486200219 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:12824521 (GRCh38)
                          1:12884379 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:12824520:G:A
                          Gene:
                          PRAMEF11 (Varview), LINC01784 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1486167003 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:12824277 (GRCh38)
                            1:12884135 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:12824276:T:C
                            Gene:
                            PRAMEF11 (Varview), LINC01784 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1486140947 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,G [Show Flanks]
                              Chromosome:
                              1:12822337 (GRCh38)
                              1:12882199 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:12822336:T:A,NC_000001.11:12822336:T:G
                              Gene:
                              LINC01784 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              A=0.000023/6 (TOPMED)
                              HGVS:
                              15.

                              rs1486090260 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:12823501 (GRCh38)
                                1:12883364 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:12823500:G:A
                                Gene:
                                LINC01784 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.002455/39 (ALFA)
                                G=0./0 (SGDP_PRJ)
                                A=0.001994/271 (GnomAD)
                                A=0.014777/43 (KOREAN)
                                A=0.025988/432 (TOMMO)
                                A=0.032418/59 (Korea1K)
                                HGVS:
                                16.

                                rs1484960996 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:12824817 (GRCh38)
                                  1:12884675 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:12824816:C:A
                                  Gene:
                                  PRAMEF11 (Varview), LINC01784 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000029/4 (GnomAD)
                                  A=0.000053/14 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484925868 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    1:12823093 (GRCh38)
                                    1:12882956 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:12823092:T:A
                                    Gene:
                                    LINC01784 (Varview)
                                    Functional Consequence:
                                    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:
                                    18.

                                    rs1484594109 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:12824125 (GRCh38)
                                      1:12883983 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:12824124:A:G
                                      Gene:
                                      PRAMEF11 (Varview), LINC01784 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000084/1 (ALFA)
                                      G=0.000049/6 (GnomAD)
                                      G=0.000468/3 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1484265769 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        1:12824416 (GRCh38)
                                        1:12884274 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:12824415:G:C
                                        Gene:
                                        PRAMEF11 (Varview), LINC01784 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000107/2 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1484233714 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:12825112 (GRCh38)
                                          1:12884970 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:12825111:C:T
                                          Gene:
                                          PRAMEF11 (Varview), LINC01784 (Varview)
                                          Functional Consequence:
                                          missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...