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Items: 1 to 20 of 12148

1.

rs1491580672 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    13:105467730 (GRCh38)
    13:106120080 (GRCh37)
    Canonical SPDI:
    NC_000013.11:105467730::G
    Gene:
    DAOA (Varview), DAOA-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.0002/8 (GnomAD)
    HGVS:
    2.

    rs1491577152 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      13:105487603 (GRCh38)
      13:106139953 (GRCh37)
      Canonical SPDI:
      NC_000013.11:105487603::G
      Gene:
      DAOA (Varview), DAOA-AS1 (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:
      3.

      rs1491555197 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,TTT,TTTT,TTTTTT [Show Flanks]
        Chromosome:
        13:105486629 (GRCh38)
        13:106138978 (GRCh37)
        Canonical SPDI:
        NC_000013.11:105486621:TTTTTTTTT:TTTTTTT,NC_000013.11:105486621:TTTTTTTTT:TTTTTTTTTT,NC_000013.11:105486621:TTTTTTTTT:TTTTTTTTTTT,NC_000013.11:105486621:TTTTTTTTT:TTTTTTTTTTTTT
        Gene:
        DAOA (Varview), DAOA-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0./0 (ALFA)
        -=0.00006/1 (TOMMO)
        HGVS:
        4.

        rs1491397625 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          13:105498772 (GRCh38)
          13:106151121 (GRCh37)
          Canonical SPDI:
          NC_000013.11:105498771:GA:
          Gene:
          DAOA-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1491380633 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            13:105473179 (GRCh38)
            13:106125528 (GRCh37)
            Canonical SPDI:
            NC_000013.11:105473177:TTT:T
            Gene:
            DAOA (Varview), DAOA-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            -=0.000029/4 (GnomAD)
            HGVS:
            6.

            rs1491067035 has merged into rs11441420 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              13:105502579 (GRCh38)
              13:106154928 (GRCh37)
              Canonical SPDI:
              NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:105502566:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              DAOA-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000013.11:g.105502579_105502585del, NC_000013.11:g.105502580_105502585del, NC_000013.11:g.105502582_105502585del, NC_000013.11:g.105502584_105502585del, NC_000013.11:g.105502585del, NC_000013.11:g.105502585dup, NC_000013.11:g.105502584_105502585dup, NC_000013.11:g.105502583_105502585dup, NC_000013.11:g.105502582_105502585dup, NC_000013.11:g.105502581_105502585dup, NC_000013.11:g.105502580_105502585dup, NC_000013.11:g.105502579_105502585dup, NC_000013.11:g.105502578_105502585dup, NC_000013.11:g.105502577_105502585dup, NC_000013.10:g.106154928_106154934del, NC_000013.10:g.106154929_106154934del, NC_000013.10:g.106154931_106154934del, NC_000013.10:g.106154933_106154934del, NC_000013.10:g.106154934del, NC_000013.10:g.106154934dup, NC_000013.10:g.106154933_106154934dup, NC_000013.10:g.106154932_106154934dup, NC_000013.10:g.106154931_106154934dup, NC_000013.10:g.106154930_106154934dup, NC_000013.10:g.106154929_106154934dup, NC_000013.10:g.106154928_106154934dup, NC_000013.10:g.106154927_106154934dup, NC_000013.10:g.106154926_106154934dup
              7.

              rs1491052373 has merged into rs71114923 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTT>-,T,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                13:105467591 (GRCh38)
                13:106119940 (GRCh37)
                Canonical SPDI:
                NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:105467583:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                DAOA (Varview), DAOA-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000013.11:g.105467591_105467599del, NC_000013.11:g.105467592_105467599del, NC_000013.11:g.105467597_105467599del, NC_000013.11:g.105467598_105467599del, NC_000013.11:g.105467599del, NC_000013.11:g.105467599dup, NC_000013.11:g.105467598_105467599dup, NC_000013.11:g.105467597_105467599dup, NC_000013.11:g.105467595_105467599dup, NC_000013.11:g.105467593_105467599dup, NC_000013.11:g.105467592_105467599dup, NC_000013.11:g.105467590_105467599dup, NC_000013.10:g.106119940_106119948del, NC_000013.10:g.106119941_106119948del, NC_000013.10:g.106119946_106119948del, NC_000013.10:g.106119947_106119948del, NC_000013.10:g.106119948del, NC_000013.10:g.106119948dup, NC_000013.10:g.106119947_106119948dup, NC_000013.10:g.106119946_106119948dup, NC_000013.10:g.106119944_106119948dup, NC_000013.10:g.106119942_106119948dup, NC_000013.10:g.106119941_106119948dup, NC_000013.10:g.106119939_106119948dup, NG_012694.1:g.6725_6733del, NG_012694.1:g.6726_6733del, NG_012694.1:g.6731_6733del, NG_012694.1:g.6732_6733del, NG_012694.1:g.6733del, NG_012694.1:g.6733dup, NG_012694.1:g.6732_6733dup, NG_012694.1:g.6731_6733dup, NG_012694.1:g.6729_6733dup, NG_012694.1:g.6727_6733dup, NG_012694.1:g.6726_6733dup, NG_012694.1:g.6724_6733dup
                8.

                rs1491008020 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CA [Show Flanks]
                  Chromosome:
                  13:105498788 (GRCh38)
                  13:106151138 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:105498788:ACA:ACACA
                  Gene:
                  DAOA-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ACACA=0./0 (ALFA)
                  AC=0.000004/1 (TOPMED)
                  AC=0.000008/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490989237 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    13:105477954 (GRCh38)
                    13:106130303 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:105477953:T:G
                    Gene:
                    DAOA (Varview), DAOA-AS1 (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:
                    10.

                    rs1490907366 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      13:105489942 (GRCh38)
                      13:106142291 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:105489941:C:A
                      Gene:
                      DAOA (Varview), DAOA-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1490862526 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CAG>- [Show Flanks]
                        Chromosome:
                        13:105503588 (GRCh38)
                        13:106155937 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:105503584:CAGCAG:CAG
                        Gene:
                        DAOA-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CAGCAG=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490844389 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          13:105500992 (GRCh38)
                          13:106153341 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:105500991:T:C
                          Gene:
                          DAOA-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490702249 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            13:105484034 (GRCh38)
                            13:106136383 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:105484033:A:G
                            Gene:
                            DAOA (Varview), DAOA-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490669277 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              13:105487915 (GRCh38)
                              13:106140264 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:105487914:G:T
                              Gene:
                              DAOA (Varview), DAOA-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490625697 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                13:105485944 (GRCh38)
                                13:106138293 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:105485943:T:C
                                Gene:
                                DAOA (Varview), DAOA-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000224/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000223/1 (Estonian)
                                HGVS:
                                16.

                                rs1490602147 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  13:105497927 (GRCh38)
                                  13:106150276 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:105497926:TT:T
                                  Gene:
                                  DAOA-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TT=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490553524 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    13:105464586 (GRCh38)
                                    13:106116935 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:105464585:G:C
                                    Gene:
                                    DAOA (Varview), DAOA-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490527783 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:105463614 (GRCh38)
                                      13:106115963 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:105463613:A:G
                                      Gene:
                                      DAOA-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490365467 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        13:105505002 (GRCh38)
                                        13:106157351 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:105505001:C:A,NC_000013.11:105505001:C:T
                                        Gene:
                                        DAOA-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490349068 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          13:105496271 (GRCh38)
                                          13:106148620 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:105496270:C:A
                                          Gene:
                                          DAOA-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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