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Items: 1 to 20 of 4149

1.

rs1491496419 has merged into rs757457755 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
    Chromosome:
    6:27697485 (GRCh38)
    6:27665264 (GRCh37)
    Canonical SPDI:
    NC_000006.12:27697474:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:27697474:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:27697474:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:27697474:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:27697474:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:27697474:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:27697474:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:27697474:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
    Gene:
    LINC01012 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAA=0./0 (ALFA)
    -=0.0831/308 (TWINSUK)
    -=0.0957/369 (ALSPAC)
    HGVS:
    2.

    rs1491474739 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      6:27697474 (GRCh38)
      6:27665253 (GRCh37)
      Canonical SPDI:
      NC_000006.12:27697473:CA:
      Gene:
      LINC01012 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:
      3.

      rs1491335321 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CT [Show Flanks]
        Chromosome:
        6:27693488 (GRCh38)
        6:27661268 (GRCh37)
        Canonical SPDI:
        NC_000006.12:27693488:T:TCT
        Gene:
        LINC01012 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TCT=0.00624/74 (ALFA)
        HGVS:
        4.

        rs1491215648 has merged into rs1554142344 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
          Chromosome:
          6:27697648 (GRCh38)
          6:27665427 (GRCh37)
          Canonical SPDI:
          NC_000006.12:27697636:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:27697636:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:27697636:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:27697636:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:27697636:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:27697636:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
          Gene:
          LINC01012 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTT=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          T=0.1/4 (GENOME_DK)
          HGVS:
          5.

          rs1491148663 has merged into rs71546560 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTTTTTTTTTTTTTT>-,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            6:27693491 (GRCh38)
            6:27661270 (GRCh37)
            Canonical SPDI:
            NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27693487:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            LINC01012 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            TTTTTTTTTTTTTTTTTTTTTTTTT=0./0 (GENOME_DK)
            TTTTTT=0.0085/5 (NorthernSweden)
            -=0.41494/2078 (1000Genomes)
            HGVS:
            NC_000006.12:g.27693491_27693515del, NC_000006.12:g.27693500_27693515del, NC_000006.12:g.27693501_27693515del, NC_000006.12:g.27693502_27693515del, NC_000006.12:g.27693503_27693515del, NC_000006.12:g.27693504_27693515del, NC_000006.12:g.27693505_27693515del, NC_000006.12:g.27693506_27693515del, NC_000006.12:g.27693507_27693515del, NC_000006.12:g.27693508_27693515del, NC_000006.12:g.27693509_27693515del, NC_000006.12:g.27693510_27693515del, NC_000006.12:g.27693511_27693515del, NC_000006.12:g.27693512_27693515del, NC_000006.12:g.27693513_27693515del, NC_000006.12:g.27693514_27693515del, NC_000006.12:g.27693515del, NC_000006.12:g.27693515dup, NC_000006.12:g.27693514_27693515dup, NC_000006.12:g.27693513_27693515dup, NC_000006.12:g.27693512_27693515dup, NC_000006.12:g.27693511_27693515dup, NC_000006.12:g.27693510_27693515dup, NC_000006.12:g.27693509_27693515dup, NC_000006.12:g.27693508_27693515dup, NC_000006.12:g.27693507_27693515dup, NC_000006.12:g.27693506_27693515dup, NC_000006.12:g.27693505_27693515dup, NC_000006.12:g.27693504_27693515dup, NC_000006.12:g.27693503_27693515dup, NC_000006.12:g.27693501_27693515dup, NC_000006.12:g.27693498_27693515dup, NC_000006.12:g.27693495_27693515dup, NC_000006.11:g.27661270_27661294del, NC_000006.11:g.27661279_27661294del, NC_000006.11:g.27661280_27661294del, NC_000006.11:g.27661281_27661294del, NC_000006.11:g.27661282_27661294del, NC_000006.11:g.27661283_27661294del, NC_000006.11:g.27661284_27661294del, NC_000006.11:g.27661285_27661294del, NC_000006.11:g.27661286_27661294del, NC_000006.11:g.27661287_27661294del, NC_000006.11:g.27661288_27661294del, NC_000006.11:g.27661289_27661294del, NC_000006.11:g.27661290_27661294del, NC_000006.11:g.27661291_27661294del, NC_000006.11:g.27661292_27661294del, NC_000006.11:g.27661293_27661294del, NC_000006.11:g.27661294del, NC_000006.11:g.27661294dup, NC_000006.11:g.27661293_27661294dup, NC_000006.11:g.27661292_27661294dup, NC_000006.11:g.27661291_27661294dup, NC_000006.11:g.27661290_27661294dup, NC_000006.11:g.27661289_27661294dup, NC_000006.11:g.27661288_27661294dup, NC_000006.11:g.27661287_27661294dup, NC_000006.11:g.27661286_27661294dup, NC_000006.11:g.27661285_27661294dup, NC_000006.11:g.27661284_27661294dup, NC_000006.11:g.27661283_27661294dup, NC_000006.11:g.27661282_27661294dup, NC_000006.11:g.27661280_27661294dup, NC_000006.11:g.27661277_27661294dup, NC_000006.11:g.27661274_27661294dup
            6.

            rs1491012374 has merged into rs369487890 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              6:27693071 (GRCh38)
              6:27660850 (GRCh37)
              Canonical SPDI:
              NC_000006.12:27693062:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:27693062:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:27693062:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:27693062:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:27693062:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:27693062:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:27693062:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              LINC01012 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAA=0./0 (ALFA)
              -=0.125/5 (GENOME_DK)
              -=0.16214/812 (1000Genomes)
              HGVS:
              7.

              rs1490926951 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                6:27700897 (GRCh38)
                6:27668676 (GRCh37)
                Canonical SPDI:
                NC_000006.12:27700896:C:G,NC_000006.12:27700896:C:T
                Gene:
                LINC01012 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1490889973 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:27700822 (GRCh38)
                  6:27668601 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:27700821:A:G
                  Gene:
                  LINC01012 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1490725034 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:27693174 (GRCh38)
                    6:27660953 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:27693173:C:T
                    Gene:
                    LINC01012 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.00035/6 (TOMMO)
                    T=0.01335/39 (KOREAN)
                    HGVS:
                    10.

                    rs1490709158 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CACTC>- [Show Flanks]
                      Chromosome:
                      6:27693029 (GRCh38)
                      6:27660808 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:27693028:CACTC:
                      Gene:
                      LINC01012 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.000142/2 (ALFA)
                      -=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1490544771 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:27692539 (GRCh38)
                        6:27660318 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:27692538:A:G
                        Gene:
                        LINC01012 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490457620 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          6:27704416 (GRCh38)
                          6:27672195 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:27704415:C:
                          Gene:
                          LINC01012 (Varview), LOC124901291 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.000094/1 (ALFA)
                          -=0./0 (GnomAD)
                          -=0.000008/2 (TOPMED)
                          -=0.000625/4 (1000Genomes)
                          HGVS:
                          13.

                          rs1489943440 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            6:27702857 (GRCh38)
                            6:27670636 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:27702856:A:C
                            Gene:
                            LINC01012 (Varview), LOC124901291 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000045/12 (TOPMED)
                            C=0.00005/7 (GnomAD)
                            HGVS:
                            14.

                            rs1489772745 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CCAGGCTGG>- [Show Flanks]
                              Chromosome:
                              6:27697842 (GRCh38)
                              6:27665621 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:27697838:TGGCCAGGCTGG:TGG
                              Gene:
                              LINC01012 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TGG=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489743432 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                6:27705839 (GRCh38)
                                6:27673618 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:27705838:T:A
                                Gene:
                                LINC01012 (Varview), LOC124901291 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.0002/1 (ALFA)
                                A=0.0002/1 (Estonian)
                                HGVS:
                                16.

                                rs1489537680 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  6:27708655 (GRCh38)
                                  6:27676434 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:27708654:G:T
                                  Gene:
                                  LINC01012 (Varview), LOC124901291 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000015/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489436995 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:27709834 (GRCh38)
                                    6:27677613 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:27709833:T:C
                                    Gene:
                                    LINC01012 (Varview), LOC124901291 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.00017/2 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489036258 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      6:27702085 (GRCh38)
                                      6:27669864 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:27702084:A:T
                                      Gene:
                                      LINC01012 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489014102 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        C>A
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:
                                        20.

                                        rs1488974051 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->C [Show Flanks]
                                          Chromosome:
                                          6:27703098 (GRCh38)
                                          6:27670878 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:27703098:CCCCCC:CCCCCCC
                                          Gene:
                                          LINC01012 (Varview), LOC124901291 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CCCCCCC=0./0 (ALFA)
                                          C=0.000015/4 (TOPMED)
                                          C=0.000021/3 (GnomAD)
                                          HGVS:

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