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: rs34852782
rs34852782
PRKAG2
2 0.925 0.120 7 151869086 intron variant -/A;AG ins 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2011
dbSNP: rs1555461176
rs1555461176
PALB2
1 1.000 0.120 16 23634893 stop gained -/T delins 0.700 0
dbSNP: rs587778883
rs587778883
MLH1
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2011 2011
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs7503953
rs7503953 		3 0.882 0.320 17 6238357 intergenic variant A/C snv 0.81 0.700 1.000 1 2011 2011
dbSNP: rs3790844
rs3790844
NR5A2
4 0.882 0.200 1 200038304 intron variant A/C;G snv 0.730 1.000 4 2010 2018
dbSNP: rs1131691021
rs1131691021
TP53
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs2239186
rs2239186
VDR
5 0.882 0.120 12 47875627 intron variant A/C;G snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs879254154
rs879254154
PALB2
4 0.851 0.160 16 23621428 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2003 2015
dbSNP: rs1859168
rs1859168
HOTTIP
13 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs6475609
rs6475609
CDKN2B-AS1
2 0.925 0.120 9 22106272 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1810636
rs1810636
LOC105372507
2 0.925 0.160 20 2674279 regulatory region variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2237895
rs2237895
KCNQ1
10 0.790 0.240 11 2835964 intron variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2020
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2003 2004
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.020 1.000 2 2006 2012
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2008 2011
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs11039149
rs11039149
NR1H3
6 0.827 0.280 11 47255124 intron variant A/G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs11085754
rs11085754
SMARCA4
2 0.925 0.120 19 11017920 intron variant A/G snv 0.41 0.010 1.000 1 2015 2015