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: rs1114167628
rs1114167628
PTEN
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs1442033697
rs1442033697
SERPINE1
1 7 101135780 frameshift variant A/- del 0.010 1.000 1 2004 2004
dbSNP: rs1064793929
rs1064793929
TP53
5 0.882 0.280 17 7675167 frameshift variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.010 1.000 1 2019 2019
dbSNP: rs774390402
rs774390402
BCAR1
1 16 75235116 missense variant A/C snv 1.2E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs763116801
rs763116801
TP63
1 3 189869342 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.927 41 2007 2018
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs772893086
rs772893086
ADARB1
4 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs121917887
rs121917887
NME1 ; NME1-NME2
10 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 0.020 1.000 2 2003 2007
dbSNP: rs1046282
rs1046282
ERCC1 ; PPP1R13L ; CD3EAP
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2011 2011
dbSNP: rs1156560901
rs1156560901
CDK15
2 2 201880120 missense variant A/G snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs11662595
rs11662595
HRH4
7 0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1223118092
rs1223118092
RHOQ ; LOC100506142
1 2 46576601 missense variant A/G snv 0.010 1.000 1 2014 2014
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
dbSNP: rs1329032366
rs1329032366
PDLIM5
5 0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1373481065
rs1373481065
GADD45A
6 0.827 0.040 1 67687668 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs138281457
rs138281457
GRAP2
1 22 39955861 missense variant A/G snv 4.0E-06 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1451539938
rs1451539938
CD82
3 0.925 0.080 11 44618361 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.010 1.000 1 2015 2015