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Items: 1 to 20 of 1789

1.

rs1491571704 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    22:46044308 (GRCh38)
    22:46440189 (GRCh37)
    Canonical SPDI:
    NC_000022.11:46044308::T
    Gene:
    LINC00899 (Varview), LOC124905135 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000084/1 (ALFA)
    T=0.000019/5 (TOPMED)
    HGVS:
    2.

    rs1491500702 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CC>- [Show Flanks]
      Chromosome:
      22:46044309 (GRCh38)
      22:46440189 (GRCh37)
      Canonical SPDI:
      NC_000022.11:46044307:CCC:C
      Gene:
      LINC00899 (Varview), LOC124905135 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      -=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1491458467 has merged into rs34570633 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        22:46042511 (GRCh38)
        22:46438391 (GRCh37)
        Canonical SPDI:
        NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46042501:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        LINC00899 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000022.11:g.46042511_46042524del, NC_000022.11:g.46042512_46042524del, NC_000022.11:g.46042513_46042524del, NC_000022.11:g.46042514_46042524del, NC_000022.11:g.46042515_46042524del, NC_000022.11:g.46042516_46042524del, NC_000022.11:g.46042517_46042524del, NC_000022.11:g.46042518_46042524del, NC_000022.11:g.46042519_46042524del, NC_000022.11:g.46042520_46042524del, NC_000022.11:g.46042521_46042524del, NC_000022.11:g.46042522_46042524del, NC_000022.11:g.46042523_46042524del, NC_000022.11:g.46042524del, NC_000022.11:g.46042524dup, NC_000022.11:g.46042523_46042524dup, NC_000022.11:g.46042522_46042524dup, NC_000022.11:g.46042521_46042524dup, NC_000022.11:g.46042520_46042524dup, NC_000022.11:g.46042519_46042524dup, NC_000022.11:g.46042518_46042524dup, NC_000022.11:g.46042517_46042524dup, NC_000022.11:g.46042516_46042524dup, NC_000022.11:g.46042515_46042524dup, NC_000022.11:g.46042514_46042524dup, NC_000022.11:g.46042507_46042524dup, NC_000022.11:g.46042504_46042524dup, NC_000022.11:g.46042502_46042524dup, NC_000022.11:g.46042524_46042525insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.46042502_46042524A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.10:g.46438391_46438404del, NC_000022.10:g.46438392_46438404del, NC_000022.10:g.46438393_46438404del, NC_000022.10:g.46438394_46438404del, NC_000022.10:g.46438395_46438404del, NC_000022.10:g.46438396_46438404del, NC_000022.10:g.46438397_46438404del, NC_000022.10:g.46438398_46438404del, NC_000022.10:g.46438399_46438404del, NC_000022.10:g.46438400_46438404del, NC_000022.10:g.46438401_46438404del, NC_000022.10:g.46438402_46438404del, NC_000022.10:g.46438403_46438404del, NC_000022.10:g.46438404del, NC_000022.10:g.46438404dup, NC_000022.10:g.46438403_46438404dup, NC_000022.10:g.46438402_46438404dup, NC_000022.10:g.46438401_46438404dup, NC_000022.10:g.46438400_46438404dup, NC_000022.10:g.46438399_46438404dup, NC_000022.10:g.46438398_46438404dup, NC_000022.10:g.46438397_46438404dup, NC_000022.10:g.46438396_46438404dup, NC_000022.10:g.46438395_46438404dup, NC_000022.10:g.46438394_46438404dup, NC_000022.10:g.46438387_46438404dup, NC_000022.10:g.46438384_46438404dup, NC_000022.10:g.46438382_46438404dup, NC_000022.10:g.46438404_46438405insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.46438382_46438404A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
        4.

        rs1491229695 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          22:46042501 (GRCh38)
          22:46438381 (GRCh37)
          Canonical SPDI:
          NC_000022.11:46042500:CA:
          Gene:
          LINC00899 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00455/54 (ALFA)
          HGVS:
          5.

          rs1491208341 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            22:46041092 (GRCh38)
            22:46436972 (GRCh37)
            Canonical SPDI:
            NC_000022.11:46041091:AT:
            Gene:
            LINC00899 (Varview)
            Functional Consequence:
            intron_variant
            HGVS:
            6.

            rs1490225370 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              22:46045727 (GRCh38)
              22:46441607 (GRCh37)
              Canonical SPDI:
              NC_000022.11:46045726:A:G
              Gene:
              LINC00899 (Varview), LOC124905135 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489806935 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AGTTT>- [Show Flanks]
                Chromosome:
                22:46040262 (GRCh38)
                22:46436142 (GRCh37)
                Canonical SPDI:
                NC_000022.11:46040259:TTAGTTT:TT
                Gene:
                LINC00899 (Varview), LOC124905136 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TT=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489180031 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  22:46039414 (GRCh38)
                  22:46435294 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:46039413:G:A
                  Gene:
                  LINC00899 (Varview), LOC124905136 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488732523 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GAA>- [Show Flanks]
                    Chromosome:
                    22:46042548 (GRCh38)
                    22:46438428 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:46042545:AAGAA:AA
                    Gene:
                    LINC00899 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AA=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1488669497 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      22:46044940 (GRCh38)
                      22:46440820 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:46044939:C:A,NC_000022.11:46044939:C:G,NC_000022.11:46044939:C:T
                      Gene:
                      LINC00899 (Varview), LOC124905135 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      A=0.00016/1 (1000Genomes)
                      HGVS:
                      11.

                      rs1488508305 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        22:46041885 (GRCh38)
                        22:46437765 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:46041884:C:T
                        Gene:
                        LINC00899 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1488336659 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          22:46043955 (GRCh38)
                          22:46439835 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:46043954:A:C
                          Gene:
                          LINC00899 (Varview), LOC124905135 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000071/10 (GnomAD)
                          HGVS:
                          13.

                          rs1487910249 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            22:46040145 (GRCh38)
                            22:46436025 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:46040144:T:C
                            Gene:
                            LINC00899 (Varview), LOC124905136 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000156/1 (1000Genomes)
                            HGVS:
                            14.

                            rs1487575380 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AACAAA>- [Show Flanks]
                              Chromosome:
                              22:46040432 (GRCh38)
                              22:46436312 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:46040428:AAAAACAAA:AAA
                              Gene:
                              LINC00899 (Varview), LOC124905136 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAA=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              -=0.000546/1 (Korea1K)
                              HGVS:
                              15.

                              rs1486882040 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                22:46042415 (GRCh38)
                                22:46438295 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:46042414:A:G
                                Gene:
                                LINC00899 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1486582857 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  22:46043040 (GRCh38)
                                  22:46438920 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:46043039:A:G
                                  Gene:
                                  LINC00899 (Varview), LOC124905135 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486231994 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    22:46042965 (GRCh38)
                                    22:46438845 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:46042964:G:A,NC_000022.11:46042964:G:C
                                    Gene:
                                    LINC00899 (Varview), LOC124905135 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    C=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1485930729 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      22:46042626 (GRCh38)
                                      22:46438506 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:46042625:T:C,NC_000022.11:46042625:T:G
                                      Gene:
                                      LINC00899 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1485911614 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        22:46041418 (GRCh38)
                                        22:46437298 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:46041417:T:G
                                        Gene:
                                        LINC00899 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1485391422 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          22:46042010 (GRCh38)
                                          22:46437890 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:46042009:G:C,NC_000022.11:46042009:G:T
                                          Gene:
                                          LINC00899 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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