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: 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: rs1126535
rs1126535
CD40LG
1 1.000 0.040 X 136648396 synonymous variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
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: rs34383331
rs34383331
MIF-AS1
3 0.882 0.040 22 23895892 non coding transcript exon variant T/A snv 0.19 0.18 0.010 1.000 1 2013 2013
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: 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: 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: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
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: 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: rs8109875
rs8109875
ZNF536
1 1.000 0.040 19 30578732 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs149085856
rs149085856 		1 1.000 0.040 17 12496210 intergenic variant C/-;CC;CCC delins 0.700 1.000 1 2018 2018
dbSNP: rs281865545
rs281865545
PECAM1
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs6503319
rs6503319
MYH3
1 1.000 0.040 17 10670842 downstream gene variant C/T snv 0.31 0.800 1.000 1 2009 2009
dbSNP: rs668
rs668
PECAM1
4 0.851 0.240 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2008 2008
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: rs1211375
rs1211375
LUC7L
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1805015
rs1805015
IL4R
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2015 2015
dbSNP: rs9940464
rs9940464
CDH13
1 1.000 0.040 16 83327170 intron variant T/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs17728971
rs17728971 		1 1.000 0.040 14 45998628 intron variant A/G snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs2073342
rs2073342
RNASE3 ; LOC100507513
3 0.882 0.200 14 20892057 missense variant C/G snv 0.73 0.65 0.010 1.000 1 2018 2018
dbSNP: rs2233860
rs2233860
RNASE3 ; LOC100507513
3 0.882 0.160 14 20892185 3 prime UTR variant G/C snv 0.18 0.19 0.010 1.000 1 2018 2018
dbSNP: rs6572335
rs6572335 		1 1.000 0.040 14 45965382 intron variant A/G snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs8019343
rs8019343
RNASE3 ; LOC100507513
2 0.925 0.080 14 20892263 3 prime UTR variant A/T snv 4.2E-02 0.010 1.000 1 2018 2018