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: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 < 0.001 1 2018 2018
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 2019 2019
dbSNP: rs2602141
rs2602141
TP53BP1
9 0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47 0.010 1.000 1 2014 2014
dbSNP: rs2708861
rs2708861
HUS1
6 0.851 0.120 7 47977120 intron variant T/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs4646537
rs4646537
CYP27B1
2 12 57763498 intron variant T/G snv 4.9E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs63749993
rs63749993
MSH2
8 0.882 0.200 2 47476424 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs6695773
rs6695773
CNIH3
1 1 224516534 intron variant T/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs6844999
rs6844999
IL21-AS1
1 4 122660080 intron variant T/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs6922
rs6922
NT5E
2 6 85495605 3 prime UTR variant T/G snv 0.74 0.010 1.000 1 2016 2016
dbSNP: rs7008482
rs7008482
NSMCE2
5 0.882 0.120 8 125255388 intron variant T/G snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs7246045
rs7246045
CGB5
5 0.882 0.120 19 49042825 upstream gene variant T/G snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs762471803
rs762471803
YAP1
6 0.925 0.040 11 102114201 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs7805607
rs7805607
LOC105375541
1 7 142815117 upstream gene variant T/G snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs7959129
rs7959129
ATF1
3 1.000 0.080 12 50775325 intron variant T/G snv 0.84 0.010 1.000 1 2019 2019
dbSNP: rs884828
rs884828
EGFEM1P
1 3 168516430 intron variant T/G snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs915894
rs915894
NOTCH4
3 1.000 0.080 6 32222613 missense variant T/G snv 0.35 0.36 0.010 1.000 1 2019 2019
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.070 0.857 7 2007 2013
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.050 1.000 5 2008 2015
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.030 1.000 3 2010 2019
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.030 1.000 3 2013 2013
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.030 1.000 3 2007 2017
dbSNP: rs16941
rs16941
BRCA1
7 0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 0.020 1.000 2 2004 2018
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008