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: 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: rs761032372
rs761032372
OGG1 ; CAMK1
2 0.925 0.200 3 9759215 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1180868926
rs1180868926
OGG1 ; CAMK1
2 0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2006 2013
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: rs778998026
rs778998026
NBN
2 0.925 0.200 8 89981502 missense variant C/G;T snv 1.6E-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: rs779346343
rs779346343
NBN
2 0.925 0.200 8 89970379 missense variant A/G snv 4.0E-06 7.0E-06 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: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs778990691
rs778990691
CCNH
6 0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1181005582
rs1181005582
MPG ; NPRL3
2 0.925 0.200 16 85767 missense variant C/T snv 7.0E-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: 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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 1995 1995
dbSNP: rs1194327405
rs1194327405
TAF1
1 1.000 0.160 X 71377774 missense variant G/A snv 1.1E-05 0.010 1.000 1 2009 2009
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: 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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2011 2011
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs1405999227
rs1405999227
EGFR
3 0.925 0.160 7 55156637 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011