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: rs1001030257
rs1001030257
PDE4D
1 5 58988559 missense variant T/C snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs1059703
rs1059703
IRAK1
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10865710
rs10865710
PPARG
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs10906850
rs10906850
LOC105376434
2 1.000 0.080 10 15183055 regulatory region variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1126616
rs1126616
SPP1
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1131012
rs1131012
PECAM1
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs1156619081
rs1156619081
UCP3
1 11 74005787 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs11575542
rs11575542
DDC ; FIGNL1
1 7 50463289 missense variant C/T snv 2.3E-02 5.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs11739136
rs11739136
KCNMB1 ; KCNIP1
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs11864909
rs11864909
PDILT
7 0.851 0.160 16 20389517 intron variant C/T snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs12107
rs12107
MYH9
3 1.000 0.040 22 36281936 3 prime UTR variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121917832
rs121917832
CDKN1B ; GPR19
3 0.925 0.200 12 12718066 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs12313273
rs12313273
ORAI1
4 0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs1232013698
rs1232013698
TNF
1 6 31577208 missense variant G/T snv 4.1E-06 0.010 1.000 1 2009 2009
dbSNP: rs12373237
rs12373237
LAMA3
5 0.851 0.200 18 23845972 intron variant G/A snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs12721226
rs12721226
AGTR1
1 3 148741522 missense variant G/A snv 6.3E-04 1.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs1290773788
rs1290773788
PDE4D
1 5 58989799 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1300938986
rs1300938986
PTGS1
1 9 122392516 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1302207706
rs1302207706
PON1
2 1.000 0.080 7 95316748 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs13038305
rs13038305
CST3
5 0.925 0.080 20 23629625 intron variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1318525693
rs1318525693
UCP3
1 11 74006370 missense variant C/G;T snv 0.010 1.000 1 2009 2009