Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs112889159
rs112889159
1 10 853363 intron variant A/T snv 6.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs113093597
rs113093597
1 1 165048606 regulatory region variant G/A snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs11465606
rs11465606
1 2 102371840 intron variant C/A snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs116973965
rs116973965
1 12 34200007 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12336042
rs12336042
1 9 105775919 3 prime UTR variant T/A snv 8.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs140824800
rs140824800
1 20 12560459 intergenic variant G/A snv 9.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs144094653
rs144094653
1 12 38199817 upstream gene variant G/A snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs145475960
rs145475960
1 2 102513902 intron variant T/A snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs145787127
rs145787127
1 17 9239097 intron variant G/A snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs147502517
rs147502517
PAH
1 12 102871642 intron variant G/T snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1773013
rs1773013
1 6 2560478 upstream gene variant A/G snv 0.92 0.700 1.000 1 2019 2019
dbSNP: rs191328328
rs191328328
1 4 173690559 intergenic variant T/C snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1913592
rs1913592
1 1 18224343 intron variant C/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs56272862
rs56272862
1 2 32154594 3 prime UTR variant A/G snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs6768500
rs6768500
1 3 2651574 intron variant G/C snv 7.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs7188484
rs7188484
1 16 88852199 intron variant G/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs72698961
rs72698961
1 14 95812326 intergenic variant A/G snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs73111385
rs73111385
1 3 63659734 missense variant A/G snv 2.5E-02 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs74382792
rs74382792
1 8 61444141 intron variant A/G snv 9.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs74463341
rs74463341
1 8 9370824 intron variant G/C snv 8.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs76646538
rs76646538
1 3 2653043 intron variant T/C snv 7.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs7729897
rs7729897
1 5 143591297 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs78797265
rs78797265
1 2 181871540 intergenic variant G/T snv 3.2E-02 0.700 1.000 1 2019 2019