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: rs2275725
rs2275725
ADAM8
1 1.000 0.080 10 133275531 missense variant A/G snv 0.89 0.90 0.010 1.000 1 2011 2011
dbSNP: rs6003
rs6003
F13B
5 0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76 0.020 1.000 2 2007 2015
dbSNP: rs2995300
rs2995300
ADAM8
1 1.000 0.080 10 133263019 3 prime UTR variant C/A snv 0.87 0.83 0.010 1.000 1 2011 2011
dbSNP: rs6809699
rs6809699
P2RY12 ; MED12L
2 1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88 0.010 < 0.001 1 2008 2008
dbSNP: rs562556
rs562556
PCSK9
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2019 2019
dbSNP: rs1613662
rs1613662
GP6 ; LOC107985325
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.010 1.000 1 2001 2001
dbSNP: rs2302685
rs2302685
LRP6 ; BCL2L14
5 0.827 0.240 12 12148964 missense variant C/T snv 0.85 0.84 0.010 1.000 1 2014 2014
dbSNP: rs2251393
rs2251393
MARCHF10
3 1.000 0.080 17 62701571 3 prime UTR variant G/A;C snv 0.85; 4.9E-05 0.700 1.000 1 2011 2011
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2019 2019
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.040 1.000 4 2003 2011
dbSNP: rs14309
rs14309
C17orf49 ; MIR497HG ; RNASEK-C17orf49
1 1.000 0.080 17 7015774 splice region variant T/C snv 0.80 0.76 0.010 1.000 1 2018 2018
dbSNP: rs42524
rs42524
COL1A2
6 0.827 0.160 7 94413927 missense variant C/A;G;T snv 8.0E-06; 0.77; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs484319
rs484319
CCT2 ; MIR3913-1
1 1.000 0.080 12 69586361 intron variant G/A;C;T snv 0.77 0.700 1.000 1 2011 2011
dbSNP: rs4407312
rs4407312
CST2
1 1.000 0.080 20 23826391 intron variant A/C;G;T snv 0.76; 4.1E-06; 6.6E-05 0.700 1.000 1 2011 2011
dbSNP: rs2351791
rs2351791
ATP10D
2 0.925 0.080 4 47580370 intron variant A/C;T snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.917 24 1998 2019
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 2010 2010
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2019 2019
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2009 2009
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2004 2004
dbSNP: rs1042034
rs1042034
APOB
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2004 2004
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.050 1.000 5 2002 2018
dbSNP: rs1144507
rs1144507
ZNF202
2 0.925 0.080 11 123729767 missense variant A/C;G;T snv 0.68 0.010 1.000 1 2006 2006