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: rs1225118391
rs1225118391
AGT
2 0.925 0.200 1 230710637 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1312839452
rs1312839452
NLRP2
1 1.000 0.160 19 54982237 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs139002770
rs139002770
ERCC2
2 0.925 0.200 19 45352772 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1408543226
rs1408543226
XPA
6 0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1436873982
rs1436873982
XRCC1
2 0.925 0.200 19 43552212 missense variant G/A snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs144271525
rs144271525
NLRP2
2 0.925 0.200 19 54983044 missense variant C/T snv 1.7E-04 3.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs146084801
rs146084801
NLRP2
2 0.925 0.200 19 54983245 missense variant C/T snv 4.4E-05 1.5E-04 0.010 1.000 1 2006 2006
dbSNP: rs148298598
rs148298598
APEX1
2 0.925 0.200 14 20457111 missense variant G/A snv 2.3E-04 2.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs148576448
rs148576448
MPG ; NPRL3
2 0.925 0.200 16 85461 missense variant G/A snv 8.0E-05 8.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2006 2006
dbSNP: rs199475643
rs199475643
PAH
3 0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs200919197
rs200919197
MPG ; NPRL3
1 1.000 0.160 16 85481 missense variant C/G;T snv 1.2E-05; 9.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs2227928
rs2227928
ATR
6 0.851 0.200 3 142562770 missense variant A/G snv 0.55 0.63 0.010 1.000 1 2006 2006
dbSNP: rs2237857
rs2237857
FANCG
2 0.925 0.200 9 35076758 missense variant G/A snv 1.5E-02 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs2307486
rs2307486
APEX1 ; OSGEP
7 0.790 0.240 14 20456045 missense variant A/G snv 7.4E-03 2.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs2308327
rs2308327
MGMT
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs369012533
rs369012533
ERCC2
2 0.925 0.200 19 45352765 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs369137693
rs369137693
ANTXR1
2 0.925 0.200 2 69193414 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs560299246
rs560299246
EXO1
2 0.925 0.200 1 241858594 missense variant C/T snv 8.0E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs746965070
rs746965070
NBN
5 0.827 0.200 8 89955487 missense variant T/C snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs746983719
rs746983719
EXO1
2 0.925 0.200 1 241860647 missense variant T/C snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs747908253
rs747908253
ANTXR1
2 0.925 0.200 2 69182599 missense variant G/A snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs748625642
rs748625642
MMAB
2 0.925 0.200 12 109568774 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006