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Items: 1 to 20 of 1003

1.

rs1491384794 has merged into rs57125728 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    5:4772504 (GRCh38)
    5:4772617 (GRCh37)
    Canonical SPDI:
    NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LINC02114 (Varview), LOC107986400 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000005.10:g.4772504_4772512del, NC_000005.10:g.4772505_4772512del, NC_000005.10:g.4772506_4772512del, NC_000005.10:g.4772507_4772512del, NC_000005.10:g.4772508_4772512del, NC_000005.10:g.4772509_4772512del, NC_000005.10:g.4772510_4772512del, NC_000005.10:g.4772511_4772512del, NC_000005.10:g.4772512del, NC_000005.10:g.4772512dup, NC_000005.10:g.4772511_4772512dup, NC_000005.10:g.4772510_4772512dup, NC_000005.10:g.4772509_4772512dup, NC_000005.10:g.4772508_4772512dup, NC_000005.10:g.4772507_4772512dup, NC_000005.10:g.4772506_4772512dup, NC_000005.10:g.4772505_4772512dup, NC_000005.10:g.4772504_4772512dup, NC_000005.10:g.4772503_4772512dup, NC_000005.10:g.4772502_4772512dup, NC_000005.10:g.4772501_4772512dup, NC_000005.10:g.4772500_4772512dup, NC_000005.10:g.4772499_4772512dup, NC_000005.10:g.4772512_4772513insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.4772617_4772625del, NC_000005.9:g.4772618_4772625del, NC_000005.9:g.4772619_4772625del, NC_000005.9:g.4772620_4772625del, NC_000005.9:g.4772621_4772625del, NC_000005.9:g.4772622_4772625del, NC_000005.9:g.4772623_4772625del, NC_000005.9:g.4772624_4772625del, NC_000005.9:g.4772625del, NC_000005.9:g.4772625dup, NC_000005.9:g.4772624_4772625dup, NC_000005.9:g.4772623_4772625dup, NC_000005.9:g.4772622_4772625dup, NC_000005.9:g.4772621_4772625dup, NC_000005.9:g.4772620_4772625dup, NC_000005.9:g.4772619_4772625dup, NC_000005.9:g.4772618_4772625dup, NC_000005.9:g.4772617_4772625dup, NC_000005.9:g.4772616_4772625dup, NC_000005.9:g.4772615_4772625dup, NC_000005.9:g.4772614_4772625dup, NC_000005.9:g.4772613_4772625dup, NC_000005.9:g.4772612_4772625dup, NC_000005.9:g.4772625_4772626insAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491291917 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->GAAAAAAAAAAAAAAAAAA
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491215610 has merged into rs57125728 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        5:4772504 (GRCh38)
        5:4772617 (GRCh37)
        Canonical SPDI:
        NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        LINC02114 (Varview), LOC107986400 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000005.10:g.4772504_4772512del, NC_000005.10:g.4772505_4772512del, NC_000005.10:g.4772506_4772512del, NC_000005.10:g.4772507_4772512del, NC_000005.10:g.4772508_4772512del, NC_000005.10:g.4772509_4772512del, NC_000005.10:g.4772510_4772512del, NC_000005.10:g.4772511_4772512del, NC_000005.10:g.4772512del, NC_000005.10:g.4772512dup, NC_000005.10:g.4772511_4772512dup, NC_000005.10:g.4772510_4772512dup, NC_000005.10:g.4772509_4772512dup, NC_000005.10:g.4772508_4772512dup, NC_000005.10:g.4772507_4772512dup, NC_000005.10:g.4772506_4772512dup, NC_000005.10:g.4772505_4772512dup, NC_000005.10:g.4772504_4772512dup, NC_000005.10:g.4772503_4772512dup, NC_000005.10:g.4772502_4772512dup, NC_000005.10:g.4772501_4772512dup, NC_000005.10:g.4772500_4772512dup, NC_000005.10:g.4772499_4772512dup, NC_000005.10:g.4772512_4772513insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.4772617_4772625del, NC_000005.9:g.4772618_4772625del, NC_000005.9:g.4772619_4772625del, NC_000005.9:g.4772620_4772625del, NC_000005.9:g.4772621_4772625del, NC_000005.9:g.4772622_4772625del, NC_000005.9:g.4772623_4772625del, NC_000005.9:g.4772624_4772625del, NC_000005.9:g.4772625del, NC_000005.9:g.4772625dup, NC_000005.9:g.4772624_4772625dup, NC_000005.9:g.4772623_4772625dup, NC_000005.9:g.4772622_4772625dup, NC_000005.9:g.4772621_4772625dup, NC_000005.9:g.4772620_4772625dup, NC_000005.9:g.4772619_4772625dup, NC_000005.9:g.4772618_4772625dup, NC_000005.9:g.4772617_4772625dup, NC_000005.9:g.4772616_4772625dup, NC_000005.9:g.4772615_4772625dup, NC_000005.9:g.4772614_4772625dup, NC_000005.9:g.4772613_4772625dup, NC_000005.9:g.4772612_4772625dup, NC_000005.9:g.4772625_4772626insAAAAAAAAAAAAAAAAAAAAAAA
        4.

        rs1491139184 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          5:4772492 (GRCh38)
          5:4772605 (GRCh37)
          Canonical SPDI:
          NC_000005.10:4772491:CA:
          Gene:
          LINC02114 (Varview), LOC107986400 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00034/4 (ALFA)
          HGVS:
          5.

          rs1491058811 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            A>-,AA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            5:4772514 (GRCh38)
            5:4772627 (GRCh37)
            Canonical SPDI:
            NC_000005.10:4772513:AAAA:AAA,NC_000005.10:4772513:AAAA:AAAAA,NC_000005.10:4772513:AAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            LINC02114 (Varview), LOC107986400 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAA=0./0 (ALFA)
            -=0.00007/1 (TOMMO)
            HGVS:
            6.

            rs1489305244 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              5:4772253 (GRCh38)
              5:4772366 (GRCh37)
              Canonical SPDI:
              NC_000005.10:4772252:A:T
              Gene:
              LINC02114 (Varview), LOC107986400 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000036/5 (GnomAD)
              HGVS:
              7.

              rs1489292494 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:4771838 (GRCh38)
                5:4771951 (GRCh37)
                Canonical SPDI:
                NC_000005.10:4771837:G:A
                Gene:
                LINC02114 (Varview), LOC107986400 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489127003 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  5:4771539 (GRCh38)
                  5:4771652 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:4771538:C:T
                  Gene:
                  LINC02114 (Varview), LOC107986400 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1488477425 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    5:4772508 (GRCh38)
                    5:4772621 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:4772507:A:G
                    Gene:
                    LINC02114 (Varview), LOC107986400 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.00002/1 (GnomAD)
                    G=0.00004/1 (TOMMO)
                    HGVS:
                    10.

                    rs1488338014 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:4775272 (GRCh38)
                      5:4775385 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:4775271:C:T
                      Gene:
                      LINC02114 (Varview), LOC107986400 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1488327239 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:4773118 (GRCh38)
                        5:4773231 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:4773117:C:T
                        Gene:
                        LINC02114 (Varview), LOC107986400 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488250788 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:4773981 (GRCh38)
                          5:4774094 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:4773980:C:T
                          Gene:
                          LINC02114 (Varview), LOC107986400 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487347987 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            A>G
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1485045890 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              5:4772151 (GRCh38)
                              5:4772264 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:4772150:G:A,NC_000005.10:4772150:G:C
                              Gene:
                              LINC02114 (Varview), LOC107986400 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.0018/8 (ALFA)
                              C=0.012/35 (KOREAN)
                              HGVS:
                              15.

                              rs1485007282 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                5:4775077 (GRCh38)
                                5:4775190 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:4775076:A:T
                                Gene:
                                LINC02114 (Varview), LOC107986400 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1483398754 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AG>- [Show Flanks]
                                  Chromosome:
                                  5:4774169 (GRCh38)
                                  5:4774282 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:4774167:GAG:G
                                  Gene:
                                  LINC02114 (Varview), LOC107986400 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  -=0.000035/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1483229675 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    5:4773786 (GRCh38)
                                    5:4773899 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:4773785:T:C,NC_000005.10:4773785:T:G
                                    Gene:
                                    LINC02114 (Varview), LOC107986400 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1481247670 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GAA>- [Show Flanks]
                                      Chromosome:
                                      5:4772518 (GRCh38)
                                      5:4772631 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:4772515:AAGAA:AA
                                      Gene:
                                      LINC02114 (Varview), LOC107986400 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AA=0./0 (ALFA)
                                      -=0.000008/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481195934 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:4771929 (GRCh38)
                                        5:4772042 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:4771928:T:C
                                        Gene:
                                        LINC02114 (Varview), LOC107986400 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1479563418 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          5:4771526 (GRCh38)
                                          5:4771640 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:4771526:AAAAAA:AAAAAAA
                                          Gene:
                                          LINC02114 (Varview), LOC107986400 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AAAAAAA=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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