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: rs7675998
rs7675998 		5 0.827 0.360 4 163086668 intergenic variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs78303930
rs78303930
NES
4 0.925 0.120 1 156670593 missense variant C/A;G snv 4.0E-06; 2.4E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs7859034
rs7859034
SMC2
4 0.851 0.120 9 104103411 intron variant G/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs876493
rs876493
PNMT
2 0.925 0.160 17 39668292 intron variant G/A snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs9564966
rs9564966 		4 0.851 0.120 13 73322084 intergenic variant A/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1182933
rs1182933
C12orf43
3 1.000 0.120 12 121016819 upstream gene variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs12029406
rs12029406 		3 0.882 0.120 1 199936700 intergenic variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs12478462
rs12478462 		1 1.000 0.120 2 152798206 intergenic variant T/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs13303010
rs13303010
NOC2L ; KLHL17
2 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 0.710 < 0.001 1 2018 2018
dbSNP: rs1336539869
rs1336539869
CDK4
2 0.925 0.120 12 57751681 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2018 2018
dbSNP: rs2417487
rs2417487
SMC2
1 1.000 0.120 9 104125300 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2470353
rs2470353
XPC ; LOC107986063
2 0.925 0.120 3 14148768 intron variant G/A;C;T snv 0.41; 1.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs2585428
rs2585428
CYP24A1
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2018 2018
dbSNP: rs2941471
rs2941471
HNF4G
4 0.851 0.240 8 75558169 intron variant G/A snv 0.65 0.710 < 0.001 1 2018 2018
dbSNP: rs3729587
rs3729587
XPC
2 0.925 0.120 3 14167125 intron variant G/C snv 0.31 0.34 0.010 1.000 1 2018 2018
dbSNP: rs3731055
rs3731055
XPC ; LSM3
2 0.925 0.120 3 14178939 intron variant C/T snv 1.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs3731114
rs3731114
XPC
2 0.925 0.120 3 14165122 intron variant C/G snv 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs4149086
rs4149086
SLCO1B1
2 0.925 0.120 12 21239517 3 prime UTR variant A/G snv 4.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs450960
rs450960
MICAL3
1 1.000 0.120 22 17833538 intron variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs4795218
rs4795218
HNF1B ; LOC105371754
2 0.925 0.120 17 37718512 intron variant A/G snv 0.82 0.710 < 0.001 1 2018 2018
dbSNP: rs5757573
rs5757573
PDGFB
2 0.925 0.120 22 39237617 intron variant C/T snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs6001516
rs6001516 		2 0.925 0.120 22 39248198 intron variant C/T snv 6.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018