Source: ALL
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: rs1718309
rs1718309
PAH
2 12 102848618 intron variant A/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs12297049
rs12297049
PAH
1 12 102857897 intron variant C/T snv 0.65 0.700 1.000 1 2015 2015
dbSNP: rs1718302
rs1718302
PAH
2 12 102878908 intron variant G/A snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs78985461
rs78985461
PAH
2 12 102901858 intron variant G/A snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs17450122
rs17450122
ASCL1
2 12 102960616 upstream gene variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17450273
rs17450273 		4 12 102967601 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs58101275
rs58101275 		1 14 103542083 regulatory region variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs33984773
rs33984773
ATP5MPL ; TDRD9
2 14 103927429 intron variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1744297
rs1744297
ASPG
12 14 104102135 intron variant T/C snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs61997624
rs61997624
ASPG ; MIR203A
2 14 104116049 upstream gene variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs12587001
rs12587001
LOC105370708
2 14 104135840 upstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9400467
rs9400467
SLC16A10
2 6 111102812 intron variant C/T snv 0.69 0.700 1.000 1 2015 2015
dbSNP: rs14399
rs14399
SLC16A10
3 6 111222741 3 prime UTR variant C/A snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs477992
rs477992
PHGDH
4 1 119714953 intron variant A/G snv 0.69 0.700 1.000 1 2015 2015
dbSNP: rs2921604
rs2921604
ANKH
2 5 14867839 intron variant T/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs10265221
rs10265221
PRKAG2
3 7 151717243 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs117936590
rs117936590 		2 3 161421071 TF binding site variant C/T snv 2.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.700 1.000 1 2016 2016
dbSNP: rs56335308
rs56335308
SLC7A2
2 8 17561952 missense variant G/A snv 1.8E-02 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs7838611
rs7838611
SLC7A2
1 8 17565208 3 prime UTR variant A/G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs7008481
rs7008481 		2 8 17574169 upstream gene variant G/A snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs9792282
rs9792282
PDGFRL
1 8 17580930 intron variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs2731672
rs2731672
GRK6
6 5 177415473 intron variant T/C snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs3733402
rs3733402
KLKB1
5 1.000 0.040 4 186236880 missense variant G/A;C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs116267673
rs116267673 		2 22 18902454 upstream gene variant C/A snv 0.700 1.000 1 2019 2019