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: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 < 0.001 1 2011 2011
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 < 0.001 1 2015 2015
dbSNP: rs180177111
rs180177111
PALB2
7 0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1906953
rs1906953
GRM4
4 0.882 0.040 6 34068669 intron variant C/T snv 0.25 0.010 < 0.001 1 2014 2014
dbSNP: rs1964676
rs1964676
AQP5 ; LOC105369764
3 0.925 0.080 12 49965683 upstream gene variant G/A snv 0.55 0.010 < 0.001 1 2017 2017
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 < 0.001 1 2014 2014
dbSNP: rs2071214
rs2071214
BIRC5
3 17 78223510 missense variant G/A snv 0.93 0.96 0.010 < 0.001 1 2013 2013
dbSNP: rs2082940
rs2082940
ADIPOQ ; ADIPOQ-AS1
10 0.763 0.480 3 186856375 3 prime UTR variant T/A;C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2279574
rs2279574
DUSP6
8 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 0.010 < 0.001 1 2017 2017
dbSNP: rs267607911
rs267607911
MSH2
8 0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs35690297
rs35690297
PMS2
5 1.000 0.120 7 6002584 start lost T/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs368933511
rs368933511
SQSTM1 ; MRNIP
5 0.851 0.080 5 179836485 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs3732379
rs3732379
CX3CR1
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 < 0.001 1 2005 2005
dbSNP: rs374052197
rs374052197
PDPN
5 0.882 0.040 1 13610421 missense variant G/A;T snv 8.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs3750913
rs3750913
NUMA1 ; LOC100128494
3 0.925 0.080 11 72015122 missense variant G/C snv 3.4E-02 2.8E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs375874539
rs375874539
TP53
15 0.732 0.320 17 7674237 missense variant G/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs397507546
rs397507546
PTPN11
9 0.790 0.360 12 112489084 missense variant G/A;C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs4648068
rs4648068
NFKB1
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.010 < 0.001 1 2012 2012
dbSNP: rs471692
rs471692
TOP2A
3 0.925 0.080 17 40400518 intron variant T/A;C snv 0.79 0.010 < 0.001 1 2017 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2005 2005
dbSNP: rs573154688
rs573154688
TP53
3 1.000 0.160 17 7670711 missense variant C/T snv 4.4E-05 3.5E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
8 0.925 0.200 3 36993548 start lost A/C;G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
10 0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs587783064
rs587783064
TP53
5 0.851 0.120 17 7669626 missense variant C/A;T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs6413464
rs6413464
CDKN2A
2 1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06 0.010 < 0.001 1 2018 2018