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: rs1056892
rs1056892
CBR3 ; CBR3-AS1
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2008 2008
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2016 2016
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs11540654
rs11540654
TP53
4 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs11895168
rs11895168
ERBB4
4 0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 0.010 < 0.001 1 2016 2016
dbSNP: rs1213469537
rs1213469537
CAV1
9 0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121913292
rs121913292
PTEN
2 1.000 0.080 10 87933148 frameshift variant G/- del 0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1239905891
rs1239905891
IGF1
3 0.925 0.080 12 102475786 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1302103336
rs1302103336
CHEK1
12 0.776 0.120 11 125637491 missense variant T/C snv 8.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs13283662
rs13283662
UHRF2
4 0.925 0.080 9 6428530 intron variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs138213197
rs138213197
HOXB13
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs1389945622
rs1389945622
MLH1 ; EPM2AIP1
1 3 36993560 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1444192401
rs1444192401
KRT7
4 0.882 0.120 12 52235347 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs146312682
rs146312682
LIMD1
1 3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs1675126
rs1675126
INCENP
3 0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88 0.010 1.000 1 2015 2015
dbSNP: rs1704754
rs1704754
HSD17B7
1 1 162790761 5 prime UTR variant C/T snv 0.70 0.62 0.010 1.000 1 2014 2014
dbSNP: rs17506395
rs17506395
TP63
3 0.925 0.080 3 189803530 intron variant T/G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2008 2008