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: rs222859
rs222859
YBX2
1 1.000 0.040 17 7294475 missense variant C/A snv 0.72 0.80 0.010 1.000 1 2016 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2007 2012
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2009 2009
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2009 2009
dbSNP: rs769642496
rs769642496
WT1 ; WT1-AS
1 1.000 0.040 11 32434957 missense variant G/A snv 6.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs7174015
rs7174015
USP8
3 0.925 0.040 15 50424871 intron variant G/A;T snv 0.020 1.000 2 2015 2018
dbSNP: rs12348
rs12348
TUSC1
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs140756663
rs140756663
TSPYL1 ; DSE
2 0.925 0.040 6 116278733 missense variant G/T snv 3.6E-03 2.7E-03 0.010 1.000 1 2012 2012
dbSNP: rs201438485
rs201438485
TSPYL1 ; DSE
2 0.925 0.160 6 116278872 missense variant T/C snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs370116569
rs370116569
TSPYL1 ; DSE
2 0.925 0.040 6 116279412 missense variant G/C snv 3.2E-05 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs188541504
rs188541504
THEG
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs10269148
rs10269148
STRA8
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11531577
rs11531577
STAG3
2 1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17 0.010 1.000 1 2018 2018
dbSNP: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.700 1.000 1 2011 2011
dbSNP: rs4045481
rs4045481
RNF212
2 1.000 0.040 4 1096837 stop gained G/A snv 0.64 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2288846
rs2288846
RFX2
2 1.000 0.040 19 6042048 missense variant C/T snv 0.25 0.22 0.010 1.000 1 2018 2018
dbSNP: rs34075659
rs34075659
REC8
1 1.000 0.040 14 24172747 missense variant C/G;T snv 2.4E-05; 3.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs768767532
rs768767532
PRL ; CASC15
1 1.000 0.040 6 22296961 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs1059060
rs1059060
PMS2
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1248142939
rs1248142939
PMS2
2 0.925 0.040 7 5992006 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs17420802
rs17420802
PMS2
2 0.925 0.040 7 5977709 missense variant T/A;C snv 2.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs587781908
rs587781908
PMS2
2 0.925 0.040 7 6005973 missense variant A/G snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs763468927
rs763468927
PMS2
2 0.925 0.040 7 5977755 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs864622096
rs864622096
PMS2
2 0.925 0.040 7 5986916 missense variant G/A snv 0.010 1.000 1 2012 2012