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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491572969 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    A>-,AA [Show Flanks]
    Chromosome:
    19:35259338 (GRCh38)
    19:35750241 (GRCh37)
    Canonical SPDI:
    NC_000019.10:35259337:AAAAAAAA:AAAAAAA,NC_000019.10:35259337:AAAAAAAA:AAAAAAAAA
    Gene:
    LSR (Varview), LOC105372380 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAA=0.000108/2 (ALFA)
    -=0.000023/6 (TOPMED)
    -=0.000036/5 (GnomAD)
    -=0.000342/4 (GnomAD_exomes)
    -=0.000446/2 (Estonian)
    HGVS:
    2.

    rs1491511061 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      19:35267018 (GRCh38)
      19:35757921 (GRCh37)
      Canonical SPDI:
      NC_000019.10:35267017:AT:
      Gene:
      USF2 (Varview), LSR (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000005/1 (GnomAD_exomes)
      -=0.000009/1 (ExAC)
      HGVS:
      3.

      rs1491433431 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        19:35259337 (GRCh38)
        19:35750240 (GRCh37)
        Canonical SPDI:
        NC_000019.10:35259336:TA:
        Gene:
        LSR (Varview), LOC105372380 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000043/6 (GnomAD)
        -=0.00008/1 (GnomAD_exomes)
        -=0.000091/24 (TOPMED)
        -=0.000312/2 (1000Genomes)
        HGVS:
        4.

        rs1491418819 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          19:35252648 (GRCh38)
          19:35743551 (GRCh37)
          Canonical SPDI:
          NC_000019.10:35252647:CA:
          Gene:
          LSR (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00674/80 (ALFA)
          HGVS:
          5.

          rs1491166930 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->AT [Show Flanks]
            Chromosome:
            19:35260855 (GRCh38)
            19:35751759 (GRCh37)
            Canonical SPDI:
            NC_000019.10:35260855::AT
            Gene:
            LSR (Varview), LOC105372380 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            AT=0./0 (ALFA)
            AT=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1491067247 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              19:35256725 (GRCh38)
              19:35747628 (GRCh37)
              Canonical SPDI:
              NC_000019.10:35256724:TG:
              Gene:
              LSR (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency
              MAF:
              -=0.000035/4 (GnomAD)
              HGVS:
              7.

              rs1490822229 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:35268397 (GRCh38)
                19:35759300 (GRCh37)
                Canonical SPDI:
                NC_000019.10:35268396:C:T
                Gene:
                USF2 (Varview), LSR (Varview)
                Functional Consequence:
                2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000199/26 (GnomAD)
                HGVS:
                8.

                rs1490710276 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:35252285 (GRCh38)
                  19:35743188 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:35252284:T:C
                  Gene:
                  LSR (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000023/6 (TOPMED)
                  HGVS:
                  9.

                  rs1490548900 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:35251974 (GRCh38)
                    19:35742877 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:35251973:A:G
                    Gene:
                    LSR (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490528724 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:35252405 (GRCh38)
                      19:35743308 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:35252404:T:C
                      Gene:
                      LSR (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490504922 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        19:35265849 (GRCh38)
                        19:35756753 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:35265849:TTTTTT:TTTTTTT
                        Gene:
                        LSR (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTT=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        T=0.005874/98 (TOMMO)
                        HGVS:
                        12.

                        rs1490492614 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          19:35252749 (GRCh38)
                          19:35743652 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:35252748:T:C
                          Gene:
                          LSR (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490158238 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            19:35267557 (GRCh38)
                            19:35758460 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:35267556:C:G,NC_000019.10:35267556:C:T
                            Gene:
                            USF2 (Varview), LSR (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000028/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000019.10:g.35267557C>G, NC_000019.10:g.35267557C>T, NC_000019.9:g.35758460C>G, NC_000019.9:g.35758460C>T, NG_029241.1:g.3565C>G, NG_029241.1:g.3565C>T, NM_015925.7:c.1536C>G, NM_015925.7:c.1536C>T, NM_015925.6:c.1680C>G, NM_015925.6:c.1680C>T, NM_205834.4:c.1593C>G, NM_205834.4:c.1593C>T, NM_205834.3:c.1737C>G, NM_205834.3:c.1737C>T, NM_205835.4:c.1389C>G, NM_205835.4:c.1389C>T, NM_205835.3:c.1533C>G, NM_205835.3:c.1533C>T, XM_005258980.3:c.1590C>G, XM_005258980.3:c.1590C>T, XM_005258980.2:c.1734C>G, XM_005258980.2:c.1734C>T, XM_005258980.1:c.1734C>G, XM_005258980.1:c.1734C>T, XM_011527026.3:c.1446C>G, XM_011527026.3:c.1446C>T, XM_011527026.2:c.1590C>G, XM_011527026.2:c.1590C>T, XM_011527026.1:c.1590C>G, XM_011527026.1:c.1590C>T, NM_001260489.2:c.1533C>G, NM_001260489.2:c.1533C>T, NM_001260489.1:c.1677C>G, NM_001260489.1:c.1677C>T, NM_001260490.2:c.1269C>G, NM_001260490.2:c.1269C>T, NM_001260490.1:c.1413C>G, NM_001260490.1:c.1413C>T, XM_047438920.1:c.1443C>G, XM_047438920.1:c.1443C>T, NM_001385215.1:c.1386C>G, NM_001385215.1:c.1386C>T, XM_047438921.1:c.1266C>G, XM_047438921.1:c.1266C>T
                            14.

                            rs1490157714 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:35253473 (GRCh38)
                              19:35744376 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:35253472:C:T
                              Gene:
                              LSR (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000023/6 (TOPMED)
                              T=0.000036/5 (GnomAD)
                              T=0.000546/1 (Korea1K)
                              HGVS:
                              15.

                              rs1490106058 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->CAAAAG [Show Flanks]
                                Chromosome:
                                19:35254406 (GRCh38)
                                19:35745310 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:35254406:CAAAAG:CAAAAGCAAAAG
                                Gene:
                                LSR (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CAAAAGCAAAAG=0./0 (ALFA)
                                CAAAAG=0.000014/2 (GnomAD)
                                CAAAAG=0.000038/10 (TOPMED)
                                HGVS:
                                16.

                                rs1490001300 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:35253114 (GRCh38)
                                  19:35744017 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:35253113:G:A
                                  Gene:
                                  LSR (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489804375 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:35259656 (GRCh38)
                                    19:35750559 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:35259655:A:G
                                    Gene:
                                    LSR (Varview), LOC105372380 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489796174 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:35246701 (GRCh38)
                                      19:35737604 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:35246700:C:T
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489707819 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:35264920 (GRCh38)
                                        19:35755823 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:35264919:G:A
                                        Gene:
                                        LSR (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489614867 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:35247107 (GRCh38)
                                          19:35738010 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:35247106:A:G
                                          Gene:
                                          LSR (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000108/2 (ALFA)
                                          G=0.000034/9 (TOPMED)
                                          G=0.000043/6 (GnomAD)
                                          G=0.000223/1 (Estonian)
                                          HGVS:

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