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Links from Gene

Items: 1 to 20 of 1000

1.

rs1489830995 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:23790800 (GRCh38)
    1:24117290 (GRCh37)
    Canonical SPDI:
    NC_000001.11:23790799:G:A
    Gene:
    LYPLA2 (Varview), LOC105376860 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000019/5 (TOPMED)
    A=0.000043/6 (GnomAD)
    HGVS:
    2.

    rs1489406334 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      1:23789734 (GRCh38)
      1:24116224 (GRCh37)
      Canonical SPDI:
      NC_000001.11:23789733:C:A
      Gene:
      LYPLA2 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1489137333 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:23792234 (GRCh38)
        1:24118724 (GRCh37)
        Canonical SPDI:
        NC_000001.11:23792233:C:T
        Gene:
        LYPLA2 (Varview), LOC105376860 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1488300172 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:23793640 (GRCh38)
          1:24120130 (GRCh37)
          Canonical SPDI:
          NC_000001.11:23793639:G:A
          Gene:
          LYPLA2 (Varview), LOC105376860 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1486756292 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C,T [Show Flanks]
            Chromosome:
            1:23794374 (GRCh38)
            1:24120864 (GRCh37)
            Canonical SPDI:
            NC_000001.11:23794373:G:A,NC_000001.11:23794373:G:C,NC_000001.11:23794373:G:T
            Gene:
            LYPLA2 (Varview), LOC105376860 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1485932575 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->AATA [Show Flanks]
              Chromosome:
              1:23795627 (GRCh38)
              1:24122118 (GRCh37)
              Canonical SPDI:
              NC_000001.11:23795627:TAAATA:TAAATAAATA
              Gene:
              GALE (Varview), LYPLA2 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TAAATAAATA=0.000071/1 (ALFA)
              TAAA=0.000008/2 (TOPMED)
              TAAA=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1485881046 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                1:23793499 (GRCh38)
                1:24119989 (GRCh37)
                Canonical SPDI:
                NC_000001.11:23793498:G:A,NC_000001.11:23793498:G:T
                Gene:
                LYPLA2 (Varview), LOC105376860 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1485463187 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  1:23789413 (GRCh38)
                  1:24115903 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:23789412:A:T
                  Gene:
                  LYPLA2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1485183897 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:23794150 (GRCh38)
                    1:24120640 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:23794149:G:C
                    Gene:
                    LYPLA2 (Varview), LOC105376860 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    HGVS:
                    10.

                    rs1484576120 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      1:23791324 (GRCh38)
                      1:24117814 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:23791323:A:G,NC_000001.11:23791323:A:T
                      Gene:
                      LYPLA2 (Varview), LOC105376860 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.00202/24 (ALFA)
                      T=0.00005/1 (GnomAD)
                      G=0.0395/114 (KOREAN)
                      HGVS:
                      11.

                      rs1484556504 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,T [Show Flanks]
                        Chromosome:
                        1:23791381 (GRCh38)
                        1:24117871 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:23791380:A:C,NC_000001.11:23791380:A:T
                        Gene:
                        LYPLA2 (Varview), LOC105376860 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        T=0.000142/2 (TOMMO)
                        T=0.000343/1 (KOREAN)
                        HGVS:
                        12.

                        rs1484516766 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:23795873 (GRCh38)
                          1:24122363 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:23795872:C:T
                          Gene:
                          GALE (Varview), LYPLA2 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1484469413 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:23790234 (GRCh38)
                            1:24116724 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:23790233:A:G
                            Gene:
                            LYPLA2 (Varview), LOC105376860 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1483582700 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:23793699 (GRCh38)
                              1:24120189 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:23793698:C:T
                              Gene:
                              LYPLA2 (Varview), LOC105376860 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1483533854 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:23792479 (GRCh38)
                                1:24118969 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:23792478:T:G
                                Gene:
                                LYPLA2 (Varview), LOC105376860 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1483173127 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:23793100 (GRCh38)
                                  1:24119590 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:23793099:A:G
                                  Gene:
                                  LYPLA2 (Varview), LOC105376860 (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:
                                  17.

                                  rs1482922413 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    1:23795881 (GRCh38)
                                    1:24122371 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:23795880:T:C,NC_000001.11:23795880:T:G
                                    Gene:
                                    GALE (Varview), LYPLA2 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482897963 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:23792809 (GRCh38)
                                      1:24119299 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:23792808:G:A
                                      Gene:
                                      LYPLA2 (Varview), LOC105376860 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1482448861 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:23794023 (GRCh38)
                                        1:24120513 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:23794022:T:C
                                        Gene:
                                        LYPLA2 (Varview), LOC105376860 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1481919609 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          1:23789713 (GRCh38)
                                          1:24116203 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:23789712:T:G
                                          Gene:
                                          LYPLA2 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000049/13 (TOPMED)
                                          G=0.00005/7 (GnomAD)
                                          G=0.000156/1 (1000Genomes)
                                          G=0.000342/1 (KOREAN)
                                          G=0.000546/1 (Korea1K)
                                          G=0.000955/16 (TOMMO)
                                          HGVS:

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