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: rs3087386
rs3087386
REV1
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs3087399
rs3087399
REV1
4 0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 0.010 1.000 1 2008 2008
dbSNP: rs4462560
rs4462560
MAN2C1 ; NEIL1 ; MIR631
5 0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs7182283
rs7182283
NEIL1
2 0.925 0.120 15 75351418 intron variant G/T snv 0.43 0.010 1.000 1 2008 2008
dbSNP: rs7297245
rs7297245
HAL
4 0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 0.010 < 0.001 1 2008 2008
dbSNP: rs804270
rs804270
NEIL2
3 0.882 0.080 8 11770112 5 prime UTR variant G/C;T snv 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 0.020 1.000 2 2005 2009
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 1.000 2 2009 2009
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
6 0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24 0.010 1.000 1 2009 2009
dbSNP: rs1047325
rs1047325
S100A2
2 1.000 0.040 1 153561551 missense variant C/T snv 7.1E-02 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1057520039
rs1057520039
STK11
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs532172691
rs532172691
S100A2
1 1.000 0.040 1 153563811 stop gained G/A snv 2.2E-04 3.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs59912467
rs59912467
STK11
7 0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06 0.010 1.000 1 2009 2009
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2009 2010
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 0.010 1.000 1 2010 2010
dbSNP: rs1454328441
rs1454328441
MUC1
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 1.000 1 2010 2010
dbSNP: rs577715207
rs577715207
TP63
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs587783064
rs587783064
TP53
5 0.851 0.120 17 7669626 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs12210050
rs12210050
LOC105374875
8 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1800975
rs1800975
XPA
19 0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs3138035
rs3138035
CCL8
3 0.882 0.080 17 34318930 upstream gene variant C/T snv 0.27 0.010 1.000 1 2011 2011