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Items: 1 to 20 of 4754

1.

rs1490986994 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:4815949 (GRCh38)
    19:4815961 (GRCh37)
    Canonical SPDI:
    NC_000019.10:4815948:T:C
    Gene:
    TICAM1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490915694 has merged into rs753687523 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      19:4833468 (GRCh38)
      19:4833480 (GRCh37)
      Canonical SPDI:
      NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4833457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      TICAM1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000019.10:g.4833468_4833478del, NC_000019.10:g.4833472_4833478del, NC_000019.10:g.4833473_4833478del, NC_000019.10:g.4833475_4833478del, NC_000019.10:g.4833476_4833478del, NC_000019.10:g.4833477_4833478del, NC_000019.10:g.4833478del, NC_000019.10:g.4833478dup, NC_000019.10:g.4833477_4833478dup, NC_000019.10:g.4833476_4833478dup, NC_000019.10:g.4833475_4833478dup, NC_000019.10:g.4833474_4833478dup, NC_000019.10:g.4833473_4833478dup, NC_000019.9:g.4833480_4833490del, NC_000019.9:g.4833484_4833490del, NC_000019.9:g.4833485_4833490del, NC_000019.9:g.4833487_4833490del, NC_000019.9:g.4833488_4833490del, NC_000019.9:g.4833489_4833490del, NC_000019.9:g.4833490del, NC_000019.9:g.4833490dup, NC_000019.9:g.4833489_4833490dup, NC_000019.9:g.4833488_4833490dup, NC_000019.9:g.4833487_4833490dup, NC_000019.9:g.4833486_4833490dup, NC_000019.9:g.4833485_4833490dup, NG_031998.1:g.3275_3285del, NG_031998.1:g.3279_3285del, NG_031998.1:g.3280_3285del, NG_031998.1:g.3282_3285del, NG_031998.1:g.3283_3285del, NG_031998.1:g.3284_3285del, NG_031998.1:g.3285del, NG_031998.1:g.3285dup, NG_031998.1:g.3284_3285dup, NG_031998.1:g.3283_3285dup, NG_031998.1:g.3282_3285dup, NG_031998.1:g.3281_3285dup, NG_031998.1:g.3280_3285dup
      3.

      rs1490786484 has merged into rs748578744 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        19:4832413 (GRCh38)
        19:4832425 (GRCh37)
        Canonical SPDI:
        NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4832402:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        TICAM1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTT=0./0 (ALFA)
        T=0.25/2 (KOREAN)
        HGVS:
        NC_000019.10:g.4832413_4832422del, NC_000019.10:g.4832418_4832422del, NC_000019.10:g.4832419_4832422del, NC_000019.10:g.4832420_4832422del, NC_000019.10:g.4832421_4832422del, NC_000019.10:g.4832422del, NC_000019.10:g.4832422dup, NC_000019.10:g.4832421_4832422dup, NC_000019.10:g.4832420_4832422dup, NC_000019.10:g.4832419_4832422dup, NC_000019.10:g.4832418_4832422dup, NC_000019.10:g.4832415_4832422dup, NC_000019.9:g.4832425_4832434del, NC_000019.9:g.4832430_4832434del, NC_000019.9:g.4832431_4832434del, NC_000019.9:g.4832432_4832434del, NC_000019.9:g.4832433_4832434del, NC_000019.9:g.4832434del, NC_000019.9:g.4832434dup, NC_000019.9:g.4832433_4832434dup, NC_000019.9:g.4832432_4832434dup, NC_000019.9:g.4832431_4832434dup, NC_000019.9:g.4832430_4832434dup, NC_000019.9:g.4832427_4832434dup, NG_031998.1:g.4331_4340del, NG_031998.1:g.4336_4340del, NG_031998.1:g.4337_4340del, NG_031998.1:g.4338_4340del, NG_031998.1:g.4339_4340del, NG_031998.1:g.4340del, NG_031998.1:g.4340dup, NG_031998.1:g.4339_4340dup, NG_031998.1:g.4338_4340dup, NG_031998.1:g.4337_4340dup, NG_031998.1:g.4336_4340dup, NG_031998.1:g.4333_4340dup
        4.

        rs1490750702 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:4817739 (GRCh38)
          19:4817751 (GRCh37)
          Canonical SPDI:
          NC_000019.10:4817738:A:G
          Gene:
          TICAM1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1490585277 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:4825661 (GRCh38)
            19:4825673 (GRCh37)
            Canonical SPDI:
            NC_000019.10:4825660:C:T
            Gene:
            TICAM1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490542240 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              19:4830566 (GRCh38)
              19:4830578 (GRCh37)
              Canonical SPDI:
              NC_000019.10:4830565:T:G
              Gene:
              TICAM1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490345908 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:4831306 (GRCh38)
                19:4831318 (GRCh37)
                Canonical SPDI:
                NC_000019.10:4831305:G:A
                Gene:
                TICAM1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490294522 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:4832044 (GRCh38)
                  19:4832056 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:4832043:G:A
                  Gene:
                  TICAM1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490218014 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:4832506 (GRCh38)
                    19:4832518 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:4832505:C:T
                    Gene:
                    TICAM1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.00007/1 (ALFA)
                    T=0.00022/1 (Estonian)
                    HGVS:
                    10.

                    rs1490073413 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      19:4825203 (GRCh38)
                      19:4825215 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:4825202:C:A,NC_000019.10:4825202:C:G,NC_000019.10:4825202:C:T
                      Gene:
                      TICAM1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1489956700 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:4824234 (GRCh38)
                        19:4824246 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:4824233:C:T
                        Gene:
                        TICAM1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489674486 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:4816374 (GRCh38)
                          19:4816386 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:4816373:G:A
                          Gene:
                          TICAM1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          A=0.000022/5 (GnomAD_exomes)
                          A=0.000071/1 (TOMMO)
                          A=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1489655471 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            19:4831730 (GRCh38)
                            19:4831742 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:4831729:C:G
                            Gene:
                            TICAM1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1489625593 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->G,T [Show Flanks]
                              Chromosome:
                              19:4821037 (GRCh38)
                              19:4821050 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:4821037::G,NC_000019.10:4821037::T
                              Gene:
                              TICAM1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.00012/2 (ALFA)
                              G=0.00479/80 (TOMMO)
                              G=0.0131/24 (Korea1K)
                              HGVS:
                              15.

                              rs1489415776 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                19:4829013 (GRCh38)
                                19:4829025 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:4829012:T:G
                                Gene:
                                TICAM1 (Varview)
                                Functional Consequence:
                                intron_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:
                                16.

                                rs1489370861 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:4816815 (GRCh38)
                                  19:4816827 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:4816814:G:A
                                  Gene:
                                  TICAM1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489104675 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CAAAAAAAAA>- [Show Flanks]
                                    Chromosome:
                                    19:4827372 (GRCh38)
                                    19:4827384 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:4827371:CAAAAAAAAA:
                                    Gene:
                                    TICAM1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489033411 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:4827911 (GRCh38)
                                      19:4827923 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:4827910:C:T
                                      Gene:
                                      TICAM1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488942142 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:4830243 (GRCh38)
                                        19:4830255 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:4830242:A:G
                                        Gene:
                                        TICAM1 (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:
                                        20.

                                        rs1488925448 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          19:4828826 (GRCh38)
                                          19:4828838 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:4828825:C:A
                                          Gene:
                                          TICAM1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000132/2 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:

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