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: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2019 2019
dbSNP: rs11625206
rs11625206
MAP3K9
2 0.925 0.080 14 70727436 3 prime UTR variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs11721827
rs11721827
TLR3
4 0.851 0.200 4 186069983 intron variant A/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs1179251
rs1179251
IL22 ; LOC105369818
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs11832059
rs11832059
VDR
2 0.925 0.080 12 47879066 missense variant A/C;G snv 4.0E-06; 1.9E-03 0.010 1.000 1 2009 2009
dbSNP: rs11923427
rs11923427
RAF1
2 0.925 0.080 3 12622336 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11986055
rs11986055
IKBKB
3 0.882 0.080 8 42277660 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs121913314
rs121913314
SRC
5 0.851 0.120 20 37403359 stop gained C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913538
rs121913538
KRAS
3 0.882 0.080 12 25245328 missense variant C/A;G snv 0.010 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 2008 2008
dbSNP: rs1238788540
rs1238788540
BRAF
2 0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs12485716
rs12485716
CASR
2 0.925 0.080 3 122260843 intron variant G/A snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs12490683
rs12490683
MYLKP1 ; LOC105377207
2 0.925 0.080 3 75329934 non coding transcript exon variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs12497343
rs12497343
MYLKP1 ; LOC105377207
2 0.925 0.080 3 75330074 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12591359
rs12591359
CYP19A1 ; MIR4713HG
4 0.925 0.080 15 51247171 intron variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs12778366
rs12778366
SIRT1
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.010 1.000 1 2016 2016