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: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1296957097
rs1296957097
CHEK2
3 0.882 0.120 22 28719401 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1482545954
rs1482545954
NLRP2
3 0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs587781823
rs587781823
ATM
5 0.851 0.280 11 108284370 frameshift variant -/T delins 0.010 1.000 1 2006 2006
dbSNP: rs770998368
rs770998368
ERCC5 ; BIVM-ERCC5
5 0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11099592
rs11099592
HPSE
5 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 0.010 1.000 1 2007 2007
dbSNP: rs6535455
rs6535455
HPSE
4 0.851 0.160 4 83310951 intron variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1194008138
rs1194008138
NR3C1
3 0.882 0.120 5 143400121 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1310678797
rs1310678797
VDR
3 0.882 0.120 12 47857143 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1361742125
rs1361742125
NR3C1
3 0.882 0.120 5 143399842 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs138047632
rs138047632
SLC19A1 ; LOC107987304
3 0.882 0.120 21 45525860 missense variant A/G snv 2.4E-03 2.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs1412792500
rs1412792500
NR3C1
3 0.882 0.120 5 143400541 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1427331568
rs1427331568
NR3C1
3 0.882 0.120 5 143314010 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs143125661
rs143125661
TPMT
3 0.882 0.120 6 18149120 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs200378616
rs200378616
ABCB1
3 0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs200890679
rs200890679
MTHFR
7 0.790 0.240 1 11795191 missense variant C/A;G snv 1.8E-04 2.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs2231137
rs2231137
ABCG2
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2008 2008
dbSNP: rs387906517
rs387906517
ABL1
6 0.827 0.120 9 130862919 missense variant G/A snv 0.010 1.000 1 2008 2008