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: rs12051350
rs12051350
SMG1
1 1.000 0.120 16 18896946 missense variant C/T snv 3.7E-02 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1361241029
rs1361241029
PBK
1 1.000 0.120 8 27828154 start lost T/C snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1370376642
rs1370376642
FOXJ1 ; RNF157-AS1
1 1.000 0.120 17 76140095 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs138280963
rs138280963
PRKACG
1 1.000 0.120 9 69013990 missense variant C/T snv 4.8E-05 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs1435047610
rs1435047610
CDK16
1 1.000 0.120 X 47223642 missense variant G/A snv 9.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs764152905
rs764152905
SMG1
1 1.000 0.120 16 18854890 missense variant T/A;C snv 8.0E-06; 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs770380303
rs770380303
MAP3K14
1 1.000 0.120 17 45289251 missense variant C/G snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1383461329
rs1383461329
KMT5A
2 1.000 0.120 12 123389469 missense variant C/T snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs730881394
rs730881394
ATM ; C11orf65
2 0.925 0.320 11 108310222 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs773379832
rs773379832
SETX
2 0.925 0.320 9 132297011 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs876658923
rs876658923
MLH1 ; EPM2AIP1
3 1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1057519910
rs1057519910
MAP2K2
4 0.851 0.160 19 4117551 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519958
rs1057519958
RXRA
4 0.851 0.200 9 134436505 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919
MYCN ; MYCNOS
5 0.851 0.160 2 15942195 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
POLE
5 0.882 0.160 12 132676599 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs750040814
rs750040814
XPC
5 0.827 0.160 3 14158639 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs1057519962
rs1057519962
SMAD4
6 0.827 0.160 18 51067035 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121434498
rs121434498
MAP2K2
6 0.807 0.280 19 4117553 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs202003805
rs202003805
PRSS1
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
SMAD4
7 0.807 0.280 18 51067036 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587778883
rs587778883
MLH1
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2011 2011
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121909235
rs121909235
PTEN
8 0.851 0.240 10 87957919 missense variant G/A snv 0.010 1.000 1 2018 2018