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: 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: 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: rs770085172
rs770085172
AGT
1 1.000 0.160 1 230710315 missense variant T/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2004 2004
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: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 0.500 2 2012 2014
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: 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: 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: rs1799966
rs1799966
BRCA1
8 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2014 2014
dbSNP: rs80357091
rs80357091
BRCA1
2 1.000 0.160 17 43104910 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs80357610
rs80357610
BRCA1
7 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.010 1.000 1 2013 2013
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: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2014 2014
dbSNP: rs60369023
rs60369023
CDA
4 0.851 0.240 1 20604981 missense variant G/A snv 2.6E-04 1.5E-04 0.010 1.000 1 2014 2014
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
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: rs758748662
rs758748662
EGFR
1 1.000 0.160 7 55155911 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs771366736
rs771366736
EGFR
1 1.000 0.160 7 55143380 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs771929085
rs771929085
EGFR
1 1.000 0.160 7 55155941 missense variant G/A snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.020 1.000 2 2015 2016
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs376556895
rs376556895
ERCC2
4 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.810 1.000 15 1994 2016
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.917 12 2003 2016