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: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs7632500
rs7632500
LOC107986152
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs764643047
rs764643047
OGG1
5 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs7852462
rs7852462
TMOD1
2 0.925 0.080 9 97548219 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs9668109
rs9668109
IKBIP
1 1.000 0.080 12 98617494 intron variant G/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs9823696
rs9823696 		2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9918259
rs9918259
TPPP ; CEP72
2 0.925 0.080 5 662977 3 prime UTR variant C/T snv 2.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs66725070
rs66725070
ALDH1A2
1 1.000 0.080 15 57975219 intron variant ACAT/- delins 0.35 0.700 1.000 1 2016 2016
dbSNP: rs199620551
rs199620551
CRTC1
2 0.925 0.080 19 18693485 intron variant G/- del 9.2E-02 0.700 1.000 1 2016 2016