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: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 < 0.001 1 2015 2015
dbSNP: rs2275036
rs2275036
GRK5
1 1.000 0.040 10 119380809 splice region variant C/T snv 0.15 0.14 0.010 1.000 1 2015 2015
dbSNP: rs2296160
rs2296160
CR1
2 0.925 0.120 1 207621975 missense variant A/G snv 0.82 0.81 0.010 < 0.001 1 2015 2015
dbSNP: rs34166473
rs34166473
HBD
6 0.827 0.320 11 5234513 5 prime UTR variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4752307
rs4752307
GRK5
1 1.000 0.040 10 119422897 intron variant G/A snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs4844600
rs4844600
CR1
1 1.000 0.040 1 207505962 missense variant A/C;G snv 5.2E-05; 0.82 0.010 < 0.001 1 2015 2015
dbSNP: rs549858786
rs549858786
IL1B
10 0.790 0.320 2 112836807 5 prime UTR variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs562962093
rs562962093
MBL2
13 0.742 0.520 10 52771740 upstream gene variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs563558831
rs563558831
CYP2B6
11 0.776 0.320 19 40991226 upstream gene variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2015 2015
dbSNP: rs72661131
rs72661131
MBL2
15 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs8078340
rs8078340
NOS2
1 1.000 0.040 17 27802186 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs9624472
rs9624472
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
2 0.925 0.040 22 24438763 splice region variant A/G snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs915942
rs915942
RPL10 ; SNORA70
2 0.925 0.040 X 154398397 splice region variant G/A snv 0.14 0.18 0.020 1.000 2 2014 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2014 2014
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs5030738
rs5030738
FCGR3B
1 1.000 0.040 1 161629864 missense variant G/A;T snv 3.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs557754092
rs557754092
DDT ; DDTL
1 1.000 0.040 22 23971554 missense variant T/G snv 9.1E-04; 4.0E-06 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs61042368
rs61042368 		2 0.925 0.040 X 154527122 downstream gene variant G/A snv 3.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs964756678
rs964756678
HPGDS
1 1.000 0.040 4 94302223 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs11213630
rs11213630 		1 1.000 0.040 11 110868831 intergenic variant A/G snv 0.55 0.700 1.000 1 2013 2013