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: rs221636
rs221636
LIN28B
2 1.000 0.120 6 105082089 3 prime UTR variant T/A snv 0.82 0.010 1.000 1 2014 2014
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs28903081
rs28903081
KLC1 ; XRCC3
5 0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs3092904
rs3092904
RB1
2 1.000 0.080 13 48477345 intron variant T/A snv 0.24 0.20 0.010 1.000 1 2014 2014
dbSNP: rs34329
rs34329
CDKN1B
2 1.000 0.080 12 12720299 intron variant G/C snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2014 2014
dbSNP: rs5743312
rs5743312
TLR3
9 0.827 0.160 4 186079102 intron variant C/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs578776
rs578776
CHRNA3
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.010 < 0.001 1 2014 2014
dbSNP: rs770140945
rs770140945
CYP1A1
4 0.882 0.200 15 74720665 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.750 8 2008 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 1.000 5 2003 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 1.000 5 2003 2015
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 0.333 3 2012 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2011 2015
dbSNP: rs2040639
rs2040639
XRCC2
2 1.000 0.080 7 152678103 upstream gene variant T/C;G snv 0.020 1.000 2 2008 2015
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs13140012
rs13140012
MTNR1A ; LOC105377596
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1473418
rs1473418
BCL2
2 1.000 0.080 18 63319316 5 prime UTR variant C/G snv 0.98 0.010 1.000 1 2015 2015
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1950252
rs1950252
BCL2L2 ; BCL2L2-PABPN1
2 1.000 0.080 14 23309489 3 prime UTR variant A/G snv 0.93 0.010 1.000 1 2015 2015
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs2227310
rs2227310
CASP7
9 0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23 0.010 1.000 1 2015 2015