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: rs12695175
rs12695175
CD47
1 1.000 0.080 3 108057799 intron variant A/C snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs1625649
rs1625649
MGMT
3 0.882 0.080 10 129466667 upstream gene variant A/C snv 0.61 0.010 1.000 1 2010 2010
dbSNP: rs16973225
rs16973225
LOC102724001
9 0.790 0.080 15 81937658 intron variant A/C snv 7.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs1990172
rs1990172
MACC1
6 0.827 0.120 7 20164512 intron variant A/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2184857
rs2184857
LOC105373224
9 0.790 0.080 1 239918447 upstream gene variant A/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs3742106
rs3742106
ABCC4
1 1.000 0.080 13 95021537 3 prime UTR variant A/C snv 0.41 0.37 0.010 1.000 1 2017 2017
dbSNP: rs4650708
rs4650708
PLA2G4A
1 1.000 0.080 1 186940985 intron variant A/C snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs6058093
rs6058093
PIGU
12 0.776 0.080 20 34625392 intron variant A/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs63750448
rs63750448
GRN
1 1.000 0.080 17 44351792 synonymous variant A/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs6720296
rs6720296
LINC01121
9 0.790 0.080 2 45181130 intron variant A/C snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs7130173
rs7130173
C11orf53
1 1.000 0.080 11 111283347 intron variant A/C snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.010 1.000 1 2015 2015
dbSNP: rs73975588
rs73975588
NXN
9 0.790 0.080 17 913501 intron variant A/C snv 9.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs7763881
rs7763881
HULC ; LOC100506207
11 0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs8003379
rs8003379
MTHFD1
3 0.882 0.160 14 64406881 intron variant A/C snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs848
rs848
IL13 ; TH2LCRR
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.010 < 0.001 1 2017 2017
dbSNP: rs9858822
rs9858822
PPARG
2 0.925 0.080 3 12369739 intron variant A/C snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs9924886
rs9924886
CDH3
10 0.776 0.080 16 68710036 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs121909242
rs121909242
PPARG
2 0.925 0.080 3 12416825 missense variant A/C snv 0.700 0
dbSNP: rs1414714315
rs1414714315
EPHA3
1 1.000 0.080 3 89413239 missense variant A/C snv 8.0E-06 0.700 0
dbSNP: rs63751121
rs63751121
MSH6 ; FBXO11
1 1.000 0.080 2 47799840 missense variant A/C snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.090 0.889 9 2006 2013
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.030 1.000 3 2007 2014
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2012 2012