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: rs3018362
rs3018362 		4 0.882 0.120 18 62414860 upstream gene variant A/G snv 0.67 0.020 0.500 2 2018 2019
dbSNP: rs3102735
rs3102735
TNFRSF11B ; COLEC10
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.020 1.000 2 2014 2019
dbSNP: rs3134070
rs3134070
TNFRSF11B ; COLEC10
3 0.882 0.200 8 118952785 upstream gene variant C/T snv 9.6E-02 0.020 1.000 2 2015 2017
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2015
dbSNP: rs4237
rs4237
PITHD1
1 1.000 0.080 1 23787639 3 prime UTR variant G/A snv 0.64 0.020 0.500 2 2015 2019
dbSNP: rs6426749
rs6426749 		3 1.000 0.080 1 22384980 intergenic variant G/C snv 0.19 0.020 1.000 2 2018 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2012 2017
dbSNP: rs10085588
rs10085588
SEM1 ; LOC105375411 ; LOC105375412
3 1.000 0.080 7 96508362 intron variant A/G snv 0.72 0.010 1.000 1 2019 2019
dbSNP: rs10203122
rs10203122
FTCDNL1
1 1.000 0.080 2 199831723 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1038304
rs1038304
CCDC170 ; LOC107986528
4 0.882 0.160 6 151612040 intron variant A/G snv 0.58 0.010 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1044032
rs1044032
SQOR
2 0.925 0.080 15 45676237 missense variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs104895278
rs104895278
TNFRSF1A
1 1.000 0.080 12 6333469 missense variant C/T snv 2.3E-04 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs1057317
rs1057317
TLR4
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10832915
rs10832915
SAA1
1 1.000 0.080 11 18269516 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2013 2013
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1181712311
rs1181712311
GPR42
1 1.000 0.080 19 35371499 missense variant C/T snv 1.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs11872467
rs11872467
RAB31
1 1.000 0.080 18 9848005 intron variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12151790
rs12151790 		1 1.000 0.080 2 234302083 regulatory region variant G/A snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs121909798
rs121909798
VDR
2 0.925 0.200 12 47846444 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2019 2019