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: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.020 1.000 2 2016 2018
dbSNP: rs2256787
rs2256787
ARHGEF10L
2 0.925 0.120 1 17566321 intron variant A/C snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs2665390
rs2665390
TIPARP ; LOC107986148
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.010 1.000 1 2012 2012
dbSNP: rs1192691
rs1192691 		2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs1950902
rs1950902
MTHFD1
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 1.000 1 2014 2014
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 1997 1997
dbSNP: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs2660753
rs2660753 		9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.020 0.500 2 2008 2011
dbSNP: rs4286604
rs4286604 		2 0.925 0.120 4 69576447 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
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: rs2252673
rs2252673
INSR
3 0.882 0.120 19 7150407 intron variant C/G snv 0.75 0.010 1.000 1 2017 2017
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: rs851797
rs851797
EXO1
13 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2013 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 0.500 2 2008 2012
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: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2017 2017
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: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs495139
rs495139
ENOSF1
4 0.882 0.120 18 676008 intron variant G/C snv 0.63 0.020 1.000 2 2010 2018
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1467465
rs1467465
THEMIS2
7 0.827 0.160 1 27884892 non coding transcript exon variant A/G snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs7305032
rs7305032
VDR
2 0.925 0.120 12 47856077 intron variant G/A snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs351771
rs351771
APC
3 0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59 0.010 1.000 1 2014 2014
dbSNP: rs10788679
rs10788679
ARHGEF10L
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018