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Items: 1 to 20 of 1898

1.

rs1491453897 has merged into rs139452624 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    19:43464934 (GRCh38)
    19:43969086 (GRCh37)
    Canonical SPDI:
    NC_000019.10:43464932:TCT:T
    Gene:
    LYPD3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.288569/3423 (ALFA)
    -=0.223022/124 (NorthernSweden)
    TC=0.343051/1718 (1000Genomes)
    -=0.356546/41698 (GnomAD)
    TC=0.489697/7475 (TOMMO)
    HGVS:
    2.

    rs1489884641 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      19:43464613 (GRCh38)
      19:43968765 (GRCh37)
      Canonical SPDI:
      NC_000019.10:43464612:G:A,NC_000019.10:43464612:G:T
      Gene:
      LYPD3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1489490058 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        19:43463425 (GRCh38)
        19:43967577 (GRCh37)
        Canonical SPDI:
        NC_000019.10:43463424:C:A
        Gene:
        LYPD3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        A=0.000007/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1489247938 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          19:43462645 (GRCh38)
          19:43966797 (GRCh37)
          Canonical SPDI:
          NC_000019.10:43462644:A:C
          Gene:
          LYPD3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000224/1 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1489164969 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GA [Show Flanks]
            Chromosome:
            19:43461857 (GRCh38)
            19:43966010 (GRCh37)
            Canonical SPDI:
            NC_000019.10:43461857:GAGA:GAGAGA
            Gene:
            LYPD3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GAGAGA=0./0 (ALFA)
            GA=0.000004/1 (GnomAD_exomes)
            GA=0.000021/3 (GnomAD)
            GA=0.00003/8 (TOPMED)
            HGVS:
            6.

            rs1489051459 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              19:43462215 (GRCh38)
              19:43966367 (GRCh37)
              Canonical SPDI:
              NC_000019.10:43462214:A:C
              Gene:
              LYPD3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1487632021 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                19:43463369 (GRCh38)
                19:43967521 (GRCh37)
                Canonical SPDI:
                NC_000019.10:43463368:C:G
                Gene:
                LYPD3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000006/1 (GnomAD_exomes)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1487502875 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:43465454 (GRCh38)
                  19:43969606 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:43465453:C:T
                  Gene:
                  LYPD3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1487323821 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->ACATGATCGCTGGCGTTGTAG [Show Flanks]
                    Chromosome:
                    19:43463160 (GRCh38)
                    19:43967313 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:43463160:TTGTAGACATGATCGCTGGCGTTGTAG:TTGTAGACATGATCGCTGGCGTTGTAGACATGATCGCTGGCGTTGTAG
                    Gene:
                    LYPD3 (Varview)
                    Functional Consequence:
                    inframe_insertion,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    TTGTAGACATGATCGCTGGCG=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487160468 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      19:43466905 (GRCh38)
                      19:43971057 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:43466904:A:G
                      Gene:
                      LYPD3 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1486960941 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:43460381 (GRCh38)
                        19:43964533 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:43460380:G:A
                        Gene:
                        LYPD3 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486668277 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          19:43466986 (GRCh38)
                          19:43971138 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:43466985:T:C
                          Gene:
                          LYPD3 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1485690158 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->C [Show Flanks]
                            Chromosome:
                            19:43465514 (GRCh38)
                            19:43969667 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:43465514:C:CC
                            Gene:
                            LYPD3 (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1485489551 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              19:43460929 (GRCh38)
                              19:43965081 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:43460928:C:G,NC_000019.10:43460928:C:T
                              Gene:
                              LYPD3 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1483794668 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:43461697 (GRCh38)
                                19:43965849 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:43461696:G:A
                                Gene:
                                LYPD3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                HGVS:
                                16.

                                rs1483762953 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->C [Show Flanks]
                                  Chromosome:
                                  19:43463487 (GRCh38)
                                  19:43967640 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:43463487:CCCC:CCCCC
                                  Gene:
                                  LYPD3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000015/2 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1483650731 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:43460629 (GRCh38)
                                    19:43964781 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:43460628:A:G
                                    Gene:
                                    LYPD3 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_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:
                                    18.

                                    rs1483619506 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GAGACACTCAGGGCATCAGAGGCC>- [Show Flanks]
                                      Chromosome:
                                      19:43466360 (GRCh38)
                                      19:43970512 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:43466351:CAGAGGCCGAGACACTCAGGGCATCAGAGGCC:CAGAGGCC
                                      Gene:
                                      LYPD3 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CAGAGGCC=0./0 (ALFA)
                                      -=0.000008/2 (TOPMED)
                                      -=0.001092/2 (Korea1K)
                                      -=0.001699/28 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1483506250 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:43461968 (GRCh38)
                                        19:43966120 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:43461967:T:C
                                        Gene:
                                        LYPD3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1482517349 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          19:43466105 (GRCh38)
                                          19:43970257 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:43466104:G:T
                                          Gene:
                                          LYPD3 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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