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Items: 1 to 20 of 920

1.

rs1489536765 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    4:112648597 (GRCh38)
    4:113569753 (GRCh37)
    Canonical SPDI:
    NC_000004.12:112648596:G:A,NC_000004.12:112648596:G:C,NC_000004.12:112648596:G:T
    Gene:
    LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    T=0.00016/1 (1000Genomes)
    HGVS:
    2.

    rs1489457657 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:112648124 (GRCh38)
      4:113569280 (GRCh37)
      Canonical SPDI:
      NC_000004.12:112648123:C:T
      Gene:
      LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
      Functional Consequence:
      upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1489095507 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:112649740 (GRCh38)
        4:113570896 (GRCh37)
        Canonical SPDI:
        NC_000004.12:112649739:G:A
        Gene:
        LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1488879946 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          4:112648359 (GRCh38)
          4:113569515 (GRCh37)
          Canonical SPDI:
          NC_000004.12:112648358:G:C
          Gene:
          LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
          Functional Consequence:
          upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          C=0.000212/4 (TOMMO)
          HGVS:
          5.

          rs1488844381 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            4:112647499 (GRCh38)
            4:113568655 (GRCh37)
            Canonical SPDI:
            NC_000004.12:112647498:TT:T
            Gene:
            LARP7 (Varview), MIR367 (Varview), MIR302CHG (Varview)
            Functional Consequence:
            coding_sequence_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant,frameshift_variant
            Validated:
            by frequency
            MAF:
            -=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.112647500del, NC_000004.11:g.113568656del, NG_032779.1:g.15537del, NM_001267039.4:c.948del, NM_001267039.3:c.969del, NM_001267039.2:c.969del, NM_001267039.1:c.969del, NM_016648.4:c.948del, NM_016648.3:c.948del, NM_015454.3:c.948del, NM_015454.2:c.948del, NM_001370978.1:c.948del, NM_001370975.1:c.948del, NM_001370977.1:c.945del, NM_001370974.1:c.948del, NM_001370976.1:c.945del, NM_001370980.1:c.945del, NM_001370979.1:c.945del, NM_001370981.1:c.711del, NM_001370982.1:c.711del, XM_024454083.2:c.948del, XM_024454083.1:c.948del, XM_047415769.1:c.948del, XM_047415771.1:c.948del, XM_047415768.1:c.948del, NR_049768.1:n.1123del, XM_047415770.1:c.948del, NP_001253968.2:p.Gln317fs, NP_057732.2:p.Gln317fs, NP_056269.1:p.Gln317fs, NP_001357907.1:p.Gln317fs, NP_001357904.1:p.Gln317fs, NP_001357906.1:p.Gln316fs, NP_001357903.1:p.Gln317fs, NP_001357905.1:p.Gln316fs, NP_001357909.1:p.Gln316fs, NP_001357908.1:p.Gln316fs, NP_001357910.1:p.Gln238fs, NP_001357911.1:p.Gln238fs, XP_024309851.1:p.Gln317fs, XP_047271725.1:p.Gln317fs, XP_047271727.1:p.Gln317fs, XP_047271724.1:p.Gln317fs, XP_047271726.1:p.Gln317fs
            6.

            rs1487495288 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TCC>- [Show Flanks]
              Chromosome:
              4:112648689 (GRCh38)
              4:113569845 (GRCh37)
              Canonical SPDI:
              NC_000004.12:112648684:CTCCTCC:CTCC
              Gene:
              LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CTCC=0./0 (ALFA)
              -=0.000014/2 (GnomAD)
              -=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1486912535 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:112648945 (GRCh38)
                4:113570101 (GRCh37)
                Canonical SPDI:
                NC_000004.12:112648944:A:G
                Gene:
                LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1485928698 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  4:112649481 (GRCh38)
                  4:113570637 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:112649480:C:G
                  Gene:
                  LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1484230924 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,T [Show Flanks]
                    Chromosome:
                    4:112649677 (GRCh38)
                    4:113570833 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:112649676:A:C,NC_000004.12:112649676:A:T
                    Gene:
                    LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000111/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.112649677A>C, NC_000004.12:g.112649677A>T, NC_000004.11:g.113570833A>C, NC_000004.11:g.113570833A>T, NG_032779.1:g.17714A>C, NG_032779.1:g.17714A>T, NM_001267039.4:c.1285A>C, NM_001267039.4:c.1285A>T, NM_001267039.3:c.1306A>C, NM_001267039.3:c.1306A>T, NM_001267039.2:c.1306A>C, NM_001267039.2:c.1306A>T, NM_001267039.1:c.1306A>C, NM_001267039.1:c.1306A>T, NM_016648.4:c.1285A>C, NM_016648.4:c.1285A>T, NM_016648.3:c.1285A>C, NM_016648.3:c.1285A>T, NM_015454.3:c.1285A>C, NM_015454.3:c.1285A>T, NM_015454.2:c.1285A>C, NM_015454.2:c.1285A>T, NM_001370978.1:c.1285A>C, NM_001370978.1:c.1285A>T, NM_001370975.1:c.1324A>C, NM_001370975.1:c.1324A>T, NM_001370977.1:c.1321A>C, NM_001370977.1:c.1321A>T, NM_001370974.1:c.1324A>C, NM_001370974.1:c.1324A>T, NM_001370976.1:c.1321A>C, NM_001370976.1:c.1321A>T, NM_001370980.1:c.1282A>C, NM_001370980.1:c.1282A>T, NM_001370979.1:c.1282A>C, NM_001370979.1:c.1282A>T, NM_001370981.1:c.1048A>C, NM_001370981.1:c.1048A>T, NM_001370982.1:c.1048A>C, NM_001370982.1:c.1048A>T, XM_024454083.2:c.1324A>C, XM_024454083.2:c.1324A>T, XM_024454083.1:c.1324A>C, XM_024454083.1:c.1324A>T, XM_047415769.1:c.1324A>C, XM_047415769.1:c.1324A>T, XM_047415771.1:c.1285A>C, XM_047415771.1:c.1285A>T, XM_047415768.1:c.1324A>C, XM_047415768.1:c.1324A>T, NR_049768.1:n.1460A>C, NR_049768.1:n.1460A>T, XM_047415770.1:c.1285A>C, XM_047415770.1:c.1285A>T, NP_001253968.2:p.Asn429His, NP_001253968.2:p.Asn429Tyr, NP_057732.2:p.Asn429His, NP_057732.2:p.Asn429Tyr, NP_056269.1:p.Asn429His, NP_056269.1:p.Asn429Tyr, NP_001357907.1:p.Asn429His, NP_001357907.1:p.Asn429Tyr, NP_001357904.1:p.Asn442His, NP_001357904.1:p.Asn442Tyr, NP_001357906.1:p.Asn441His, NP_001357906.1:p.Asn441Tyr, NP_001357903.1:p.Asn442His, NP_001357903.1:p.Asn442Tyr, NP_001357905.1:p.Asn441His, NP_001357905.1:p.Asn441Tyr, NP_001357909.1:p.Asn428His, NP_001357909.1:p.Asn428Tyr, NP_001357908.1:p.Asn428His, NP_001357908.1:p.Asn428Tyr, NP_001357910.1:p.Asn350His, NP_001357910.1:p.Asn350Tyr, NP_001357911.1:p.Asn350His, NP_001357911.1:p.Asn350Tyr, XP_024309851.1:p.Asn442His, XP_024309851.1:p.Asn442Tyr, XP_047271725.1:p.Asn442His, XP_047271725.1:p.Asn442Tyr, XP_047271727.1:p.Asn429His, XP_047271727.1:p.Asn429Tyr, XP_047271724.1:p.Asn442His, XP_047271724.1:p.Asn442Tyr, XP_047271726.1:p.Asn429His, XP_047271726.1:p.Asn429Tyr
                    10.

                    rs1483444766 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      4:112648950 (GRCh38)
                      4:113570106 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:112648949:A:C
                      Gene:
                      LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000014/2 (GnomAD)
                      C=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1482990552 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        4:112649933 (GRCh38)
                        4:113571089 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:112649932:A:C,NC_000004.12:112649932:A:G
                        Gene:
                        LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1482318126 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:112648901 (GRCh38)
                          4:113570057 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:112648900:A:G
                          Gene:
                          LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000015/2 (GnomAD)
                          G=0.00006/1 (TOMMO)
                          HGVS:
                          13.

                          rs1480974043 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            4:112648015 (GRCh38)
                            4:113569171 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:112648014:C:A
                            Gene:
                            LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1480954687 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:112648249 (GRCh38)
                              4:113569405 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:112648248:T:C
                              Gene:
                              LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1480678138 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:112647876 (GRCh38)
                                4:113569032 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:112647875:A:G
                                Gene:
                                LARP7 (Varview), MIR302A (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                                Functional Consequence:
                                intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1479340992 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  4:112647710 (GRCh38)
                                  4:113568866 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:112647709:G:C
                                  Gene:
                                  LARP7 (Varview), MIR302A (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000114/1 (ALFA)
                                  C=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000004.12:g.112647710G>C, NC_000004.11:g.113568866G>C, NG_032779.1:g.15747G>C, NM_001267039.4:c.1018G>C, NM_001267039.3:c.1039G>C, NM_001267039.2:c.1039G>C, NM_001267039.1:c.1039G>C, NM_016648.4:c.1018G>C, NM_016648.3:c.1018G>C, NM_015454.3:c.1018G>C, NM_015454.2:c.1018G>C, NM_001370978.1:c.1018G>C, NM_001370975.1:c.1057G>C, NM_001370977.1:c.1054G>C, NM_001370974.1:c.1057G>C, NM_001370976.1:c.1054G>C, NM_001370980.1:c.1015G>C, NM_001370979.1:c.1015G>C, NM_001370981.1:c.781G>C, NM_001370982.1:c.781G>C, XM_024454083.2:c.1057G>C, XM_024454083.1:c.1057G>C, XM_047415769.1:c.1057G>C, XM_047415771.1:c.1018G>C, XM_047415768.1:c.1057G>C, NR_049768.1:n.1193G>C, XM_047415770.1:c.1018G>C, NP_001253968.2:p.Glu340Gln, NP_057732.2:p.Glu340Gln, NP_056269.1:p.Glu340Gln, NP_001357907.1:p.Glu340Gln, NP_001357904.1:p.Glu353Gln, NP_001357906.1:p.Glu352Gln, NP_001357903.1:p.Glu353Gln, NP_001357905.1:p.Glu352Gln, NP_001357909.1:p.Glu339Gln, NP_001357908.1:p.Glu339Gln, NP_001357910.1:p.Glu261Gln, NP_001357911.1:p.Glu261Gln, XP_024309851.1:p.Glu353Gln, XP_047271725.1:p.Glu353Gln, XP_047271727.1:p.Glu340Gln, XP_047271724.1:p.Glu353Gln, XP_047271726.1:p.Glu340Gln
                                  18.

                                  rs1477216084 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    4:112648679 (GRCh38)
                                    4:113569835 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:112648678:C:A,NC_000004.12:112648678:C:G,NC_000004.12:112648678:C:T
                                    Gene:
                                    LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    A=0.00021/4 (TOMMO)
                                    HGVS:
                                    19.

                                    rs1474914318 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:112648057 (GRCh38)
                                      4:113569213 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:112648056:A:G
                                      Gene:
                                      LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1472955458 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        4:112648609 (GRCh38)
                                        4:113569765 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:112648608:A:C
                                        Gene:
                                        LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:

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