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: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2013 2013
dbSNP: rs2660753
rs2660753 		9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs7643459
rs7643459
LMCD1-AS1 ; LOC101927394
2 0.925 0.120 3 7963141 intron variant G/C;T snv 0.710 1.000 1 2019 2019
dbSNP: rs7651446
rs7651446
TIPARP
3 0.882 0.120 3 156689208 intron variant G/T snv 7.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs9283636
rs9283636 		1 1.000 0.120 3 166315136 intergenic variant G/A snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913286
rs121913286
PIK3CA
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs17329882
rs17329882
SYNPO2
2 0.925 0.120 4 119028805 intron variant A/C;T snv 0.710 1.000 2 2015 2017
dbSNP: rs10017134
rs10017134
UGT2A1 ; UGT2A2
2 0.925 0.120 4 69591303 intron variant T/C snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs192876988
rs192876988
LOC105377300
4 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs4286604
rs4286604 		2 0.925 0.120 4 69576447 intron variant A/G snv 0.76 0.710 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs142091544
rs142091544 		2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.710 1.000 1 2019 2019
dbSNP: rs115344852
rs115344852
GPX6
1 1.000 0.120 6 28518321 intron variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs237028
rs237028
TAB2
2 0.925 0.120 6 149397514 intron variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs2803073
rs2803073
PRKN
2 0.925 0.120 6 162541796 intron variant G/A snv 0.74 0.010 1.000 1 2016 2016
dbSNP: rs314276
rs314276
LIN28B
10 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs7748275
rs7748275 		3 0.882 0.120 6 3580855 downstream gene variant T/A snv 8.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2009 2013
dbSNP: rs1017134
rs1017134 		2 0.925 0.120 7 35307237 intergenic variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10260419
rs10260419
THSD7A
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013