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Items: 1 to 20 of 3493

1.

rs1491485581 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    11:47450369 (GRCh38)
    11:47471921 (GRCh37)
    Canonical SPDI:
    NC_000011.10:47450368:CT:
    Gene:
    RAPSN (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000071/1 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000019/5 (TOPMED)
    HGVS:

    2.

    rs1491374663 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      11:47444857 (GRCh38)
      11:47466409 (GRCh37)
      Canonical SPDI:
      NC_000011.10:47444856:CA:
      Gene:
      RAPSN (Varview), LOC124902673 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.01214/144 (ALFA)
      HGVS:

      3.

      rs1491251084 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->CTTT
        Chromosome:
        no mapping
        Canonical SPDI:

        4.

        rs1491217142 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          11:47439474 (GRCh38)
          11:47461025 (GRCh37)
          Canonical SPDI:
          NC_000011.10:47439473:CA:
          Gene:
          RAPSN (Varview), LOC124902673 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.00002/2 (GnomAD)
          HGVS:

          5.

          rs1491205914 has merged into rs61001294 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            11:47445608 (GRCh38)
            11:47467160 (GRCh37)
            Canonical SPDI:
            NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47445593:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            RAPSN (Varview), LOC124902673 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000011.10:g.47445608_47445615del, NC_000011.10:g.47445610_47445615del, NC_000011.10:g.47445611_47445615del, NC_000011.10:g.47445612_47445615del, NC_000011.10:g.47445613_47445615del, NC_000011.10:g.47445614_47445615del, NC_000011.10:g.47445615del, NC_000011.10:g.47445615dup, NC_000011.10:g.47445614_47445615dup, NC_000011.10:g.47445613_47445615dup, NC_000011.10:g.47445612_47445615dup, NC_000011.10:g.47445611_47445615dup, NC_000011.10:g.47445610_47445615dup, NC_000011.10:g.47445609_47445615dup, NC_000011.10:g.47445608_47445615dup, NC_000011.10:g.47445607_47445615dup, NC_000011.10:g.47445606_47445615dup, NC_000011.10:g.47445598_47445615dup, NC_000011.10:g.47445594_47445615dup, NC_000011.10:g.47445615_47445616insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.47445615_47445616insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.47445615_47445616insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.47467160_47467167del, NC_000011.9:g.47467162_47467167del, NC_000011.9:g.47467163_47467167del, NC_000011.9:g.47467164_47467167del, NC_000011.9:g.47467165_47467167del, NC_000011.9:g.47467166_47467167del, NC_000011.9:g.47467167del, NC_000011.9:g.47467167dup, NC_000011.9:g.47467166_47467167dup, NC_000011.9:g.47467165_47467167dup, NC_000011.9:g.47467164_47467167dup, NC_000011.9:g.47467163_47467167dup, NC_000011.9:g.47467162_47467167dup, NC_000011.9:g.47467161_47467167dup, NC_000011.9:g.47467160_47467167dup, NC_000011.9:g.47467159_47467167dup, NC_000011.9:g.47467158_47467167dup, NC_000011.9:g.47467150_47467167dup, NC_000011.9:g.47467146_47467167dup, NC_000011.9:g.47467167_47467168insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.47467167_47467168insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.47467167_47467168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008312.2:g.8535_8542del, NG_008312.2:g.8537_8542del, NG_008312.2:g.8538_8542del, NG_008312.2:g.8539_8542del, NG_008312.2:g.8540_8542del, NG_008312.2:g.8541_8542del, NG_008312.2:g.8542del, NG_008312.2:g.8542dup, NG_008312.2:g.8541_8542dup, NG_008312.2:g.8540_8542dup, NG_008312.2:g.8539_8542dup, NG_008312.2:g.8538_8542dup, NG_008312.2:g.8537_8542dup, NG_008312.2:g.8536_8542dup, NG_008312.2:g.8535_8542dup, NG_008312.2:g.8534_8542dup, NG_008312.2:g.8533_8542dup, NG_008312.2:g.8525_8542dup, NG_008312.2:g.8521_8542dup, NG_008312.2:g.8542_8543insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008312.2:g.8542_8543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008312.2:g.8542_8543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008312.1:g.8578_8585del, NG_008312.1:g.8580_8585del, NG_008312.1:g.8581_8585del, NG_008312.1:g.8582_8585del, NG_008312.1:g.8583_8585del, NG_008312.1:g.8584_8585del, NG_008312.1:g.8585del, NG_008312.1:g.8585dup, NG_008312.1:g.8584_8585dup, NG_008312.1:g.8583_8585dup, NG_008312.1:g.8582_8585dup, NG_008312.1:g.8581_8585dup, NG_008312.1:g.8580_8585dup, NG_008312.1:g.8579_8585dup, NG_008312.1:g.8578_8585dup, NG_008312.1:g.8577_8585dup, NG_008312.1:g.8576_8585dup, NG_008312.1:g.8568_8585dup, NG_008312.1:g.8564_8585dup, NG_008312.1:g.8585_8586insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008312.1:g.8585_8586insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008312.1:g.8585_8586insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1491176150 has merged into rs10611957 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              11:47444870 (GRCh38)
              11:47466422 (GRCh37)
              Canonical SPDI:
              NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47444857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              RAPSN (Varview), LOC124902673 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAA=0./0 (ALFA)
              -=0.25/10 (GENOME_DK)
              HGVS:
              NC_000011.10:g.47444870_47444879del, NC_000011.10:g.47444872_47444879del, NC_000011.10:g.47444873_47444879del, NC_000011.10:g.47444874_47444879del, NC_000011.10:g.47444875_47444879del, NC_000011.10:g.47444876_47444879del, NC_000011.10:g.47444877_47444879del, NC_000011.10:g.47444878_47444879del, NC_000011.10:g.47444879del, NC_000011.10:g.47444879dup, NC_000011.10:g.47444878_47444879dup, NC_000011.10:g.47444877_47444879dup, NC_000011.10:g.47444875_47444879dup, NC_000011.10:g.47444872_47444879dup, NC_000011.10:g.47444871_47444879dup, NC_000011.10:g.47444870_47444879dup, NC_000011.10:g.47444869_47444879dup, NC_000011.10:g.47444858_47444879A[23]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.47466422_47466431del, NC_000011.9:g.47466424_47466431del, NC_000011.9:g.47466425_47466431del, NC_000011.9:g.47466426_47466431del, NC_000011.9:g.47466427_47466431del, NC_000011.9:g.47466428_47466431del, NC_000011.9:g.47466429_47466431del, NC_000011.9:g.47466430_47466431del, NC_000011.9:g.47466431del, NC_000011.9:g.47466431dup, NC_000011.9:g.47466430_47466431dup, NC_000011.9:g.47466429_47466431dup, NC_000011.9:g.47466427_47466431dup, NC_000011.9:g.47466424_47466431dup, NC_000011.9:g.47466423_47466431dup, NC_000011.9:g.47466422_47466431dup, NC_000011.9:g.47466421_47466431dup, NC_000011.9:g.47466410_47466431A[23]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008312.2:g.9269_9278del, NG_008312.2:g.9271_9278del, NG_008312.2:g.9272_9278del, NG_008312.2:g.9273_9278del, NG_008312.2:g.9274_9278del, NG_008312.2:g.9275_9278del, NG_008312.2:g.9276_9278del, NG_008312.2:g.9277_9278del, NG_008312.2:g.9278del, NG_008312.2:g.9278dup, NG_008312.2:g.9277_9278dup, NG_008312.2:g.9276_9278dup, NG_008312.2:g.9274_9278dup, NG_008312.2:g.9271_9278dup, NG_008312.2:g.9270_9278dup, NG_008312.2:g.9269_9278dup, NG_008312.2:g.9268_9278dup, NG_008312.2:g.9257_9278T[24]ATTTTTTTTTTTTTTTTTTTTTTT[1], NG_008312.1:g.9312_9321del, NG_008312.1:g.9314_9321del, NG_008312.1:g.9315_9321del, NG_008312.1:g.9316_9321del, NG_008312.1:g.9317_9321del, NG_008312.1:g.9318_9321del, NG_008312.1:g.9319_9321del, NG_008312.1:g.9320_9321del, NG_008312.1:g.9321del, NG_008312.1:g.9321dup, NG_008312.1:g.9320_9321dup, NG_008312.1:g.9319_9321dup, NG_008312.1:g.9317_9321dup, NG_008312.1:g.9314_9321dup, NG_008312.1:g.9313_9321dup, NG_008312.1:g.9312_9321dup, NG_008312.1:g.9311_9321dup, NG_008312.1:g.9300_9321T[24]ATTTTTTTTTTTTTTTTTTTTTTT[1]

              7.

              rs1491149801 has merged into rs3972616 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                11:47439725 (GRCh38)
                11:47461276 (GRCh37)
                Canonical SPDI:
                NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47439712:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                RAPSN (Varview), LOC124902673 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTT=0./0 (ALFA)
                T=0.4275/2141 (1000Genomes)
                HGVS:
                NC_000011.10:g.47439725_47439731del, NC_000011.10:g.47439727_47439731del, NC_000011.10:g.47439729_47439731del, NC_000011.10:g.47439730_47439731del, NC_000011.10:g.47439731del, NC_000011.10:g.47439731dup, NC_000011.10:g.47439730_47439731dup, NC_000011.10:g.47439729_47439731dup, NC_000011.10:g.47439728_47439731dup, NC_000011.10:g.47439727_47439731dup, NC_000011.10:g.47439726_47439731dup, NC_000011.10:g.47439725_47439731dup, NC_000011.10:g.47439724_47439731dup, NC_000011.10:g.47439723_47439731dup, NC_000011.10:g.47439721_47439731dup, NC_000011.10:g.47439719_47439731dup, NC_000011.9:g.47461276_47461282del, NC_000011.9:g.47461278_47461282del, NC_000011.9:g.47461280_47461282del, NC_000011.9:g.47461281_47461282del, NC_000011.9:g.47461282del, NC_000011.9:g.47461282dup, NC_000011.9:g.47461281_47461282dup, NC_000011.9:g.47461280_47461282dup, NC_000011.9:g.47461279_47461282dup, NC_000011.9:g.47461278_47461282dup, NC_000011.9:g.47461277_47461282dup, NC_000011.9:g.47461276_47461282dup, NC_000011.9:g.47461275_47461282dup, NC_000011.9:g.47461274_47461282dup, NC_000011.9:g.47461272_47461282dup, NC_000011.9:g.47461270_47461282dup, NG_008312.2:g.14417_14423del, NG_008312.2:g.14419_14423del, NG_008312.2:g.14421_14423del, NG_008312.2:g.14422_14423del, NG_008312.2:g.14423del, NG_008312.2:g.14423dup, NG_008312.2:g.14422_14423dup, NG_008312.2:g.14421_14423dup, NG_008312.2:g.14420_14423dup, NG_008312.2:g.14419_14423dup, NG_008312.2:g.14418_14423dup, NG_008312.2:g.14417_14423dup, NG_008312.2:g.14416_14423dup, NG_008312.2:g.14415_14423dup, NG_008312.2:g.14413_14423dup, NG_008312.2:g.14411_14423dup, NG_008312.1:g.14461_14467del, NG_008312.1:g.14463_14467del, NG_008312.1:g.14465_14467del, NG_008312.1:g.14466_14467del, NG_008312.1:g.14467del, NG_008312.1:g.14467dup, NG_008312.1:g.14466_14467dup, NG_008312.1:g.14465_14467dup, NG_008312.1:g.14464_14467dup, NG_008312.1:g.14463_14467dup, NG_008312.1:g.14462_14467dup, NG_008312.1:g.14461_14467dup, NG_008312.1:g.14460_14467dup, NG_008312.1:g.14459_14467dup, NG_008312.1:g.14457_14467dup, NG_008312.1:g.14455_14467dup

                8.

                rs1491113827 has merged into rs11364389 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>-,AA [Show Flanks]
                  Chromosome:
                  11:47439475 (GRCh38)
                  11:47461026 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:47439474:AAAAAAAAA:AAAAAAAA,NC_000011.10:47439474:AAAAAAAAA:AAAAAAAAAA
                  Gene:
                  RAPSN (Varview), LOC124902673 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAA=0.4313/3591 (ALFA)
                  A=0.281027/1259 (Estonian)
                  A=0.287756/1067 (TWINSUK)
                  A=0.28905/1114 (ALSPAC)
                  A=0.3/12 (GENOME_DK)
                  A=0.321643/321 (GoNL)
                  A=0.373333/224 (NorthernSweden)
                  A=0.381793/1912 (1000Genomes)
                  A=0.382304/53216 (GnomAD)
                  A=0.383169/101421 (TOPMED)
                  A=0.407205/746 (Korea1K)
                  HGVS:

                  9.

                  rs1490743234 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:47437789 (GRCh38)
                    11:47459340 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:47437788:A:G
                    Gene:
                    RAPSN (Varview), LOC124902673 (Varview)
                    Functional Consequence:
                    stop_lost,3_prime_UTR_variant,terminator_codon_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:

                    10.

                    rs1490589340 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:47441021 (GRCh38)
                      11:47462572 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:47441020:G:A
                      Gene:
                      RAPSN (Varview), LOC124902673 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000029/4 (GnomAD)
                      HGVS:

                      11.

                      rs1490545477 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:47438310 (GRCh38)
                        11:47459861 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:47438309:C:T
                        Gene:
                        RAPSN (Varview), LOC124902673 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1490350132 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:47443434 (GRCh38)
                          11:47464986 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:47443433:C:T
                          Gene:
                          RAPSN (Varview), LOC124902673 (Varview)
                          Functional Consequence:
                          intron_variant
                          HGVS:

                          13.

                          rs1489746103 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            C>- [Show Flanks]
                            Chromosome:
                            11:47441992 (GRCh38)
                            11:47463544 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:47441991:CCCC:CCC
                            Gene:
                            RAPSN (Varview), LOC124902673 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CCC=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000021/3 (GnomAD)
                            HGVS:

                            14.

                            rs1489601926 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:47450172 (GRCh38)
                              11:47471724 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:47450171:A:G
                              Gene:
                              RAPSN (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000224/1 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000223/1 (Estonian)
                              HGVS:

                              15.

                              rs1489394057 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                11:47444384 (GRCh38)
                                11:47465936 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:47444383:T:A
                                Gene:
                                RAPSN (Varview), LOC124902673 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000029/4 (GnomAD)
                                HGVS:

                                16.

                                rs1489345561 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:47444950 (GRCh38)
                                  11:47466502 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:47444949:G:A
                                  Gene:
                                  RAPSN (Varview), LOC124902673 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000019/5 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489176584 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:47442037 (GRCh38)
                                    11:47463589 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:47442036:G:A
                                    Gene:
                                    RAPSN (Varview), LOC124902673 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489030355 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      11:47447254 (GRCh38)
                                      11:47468806 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:47447253:C:A,NC_000011.10:47447253:C:T
                                      Gene:
                                      RAPSN (Varview), LOC124902673 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1488954926 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:47450332 (GRCh38)
                                        11:47471884 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:47450331:T:C
                                        Gene:
                                        RAPSN (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000019/5 (TOPMED)
                                        C=0.000021/3 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1488738683 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          11:47439163 (GRCh38)
                                          11:47460714 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:47439162:C:G
                                          Gene:
                                          RAPSN (Varview), LOC124902673 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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