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: rs2254638
rs2254638
N6AMT1
3 0.882 0.040 21 28883961 intron variant A/C;G snv 0.020 1.000 2 2017 2018
dbSNP: rs34489123
rs34489123
GNGT1 ; TFPI2 ; LOC105375401
1 1.000 0.040 7 93889174 synonymous variant C/T snv 5.8E-02 5.9E-02 0.020 1.000 2 2015 2019
dbSNP: rs6020
rs6020
F5
3 0.882 0.040 1 169549874 missense variant C/T snv 0.11 0.12 0.020 1.000 2 2000 2000
dbSNP: rs778916575
rs778916575
CAD
3 0.882 0.040 2 27222595 missense variant G/A snv 1.2E-05 0.020 1.000 2 2002 2006
dbSNP: rs10159239
rs10159239
NLRP3
3 0.882 0.040 1 247443750 intron variant G/A snv 0.57 0.010 1.000 1 2020 2020
dbSNP: rs1051339
rs1051339
LIPA
3 0.882 0.040 10 89247582 missense variant C/T snv 9.5E-02 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1058930
rs1058930
CYP2C8
4 0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs10918859
rs10918859
NOS1AP
3 0.882 0.040 1 162199478 intron variant G/A snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs11014166
rs11014166
CACNB2
10 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs11057830
rs11057830
SCARB1
5 0.851 0.040 12 124822507 intron variant G/A snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs116092985
rs116092985
PKD1
4 0.882 0.040 16 2110972 missense variant A/G snv 6.5E-02 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs11646692
rs11646692
BCO1
1 1.000 0.040 16 81238301 upstream gene variant C/G snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs1199475313
rs1199475313
ADRB3
4 0.851 0.040 8 37966277 missense variant T/C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12040273
rs12040273
GALNT2
3 0.882 0.040 1 230063651 intron variant C/T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs12115090
rs12115090
CRISPLD1
3 0.882 0.040 8 75012585 intron variant A/C snv 0.33 0.44 0.010 1.000 1 2018 2018
dbSNP: rs12344245
rs12344245
FAM189A2
3 0.882 0.040 9 69340801 intron variant A/G snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs12704673
rs12704673
CALCR
3 0.882 0.040 7 93525009 intron variant A/G;T snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs13144478
rs13144478 		4 0.882 0.040 4 115275150 regulatory region variant A/T snv 5.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs1351855165
rs1351855165
DUOX2
3 0.882 0.040 15 45111550 synonymous variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1384889210
rs1384889210
APOA1 ; APOA1-AS
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 1996 1996
dbSNP: rs138760780
rs138760780
CDK18
3 0.882 0.040 1 205515245 intron variant C/T snv 1.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs1411364031
rs1411364031
TNF
3 0.882 0.040 6 31577502 missense variant T/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs141383962
rs141383962
CLU
3 0.882 0.040 8 27605112 missense variant C/G;T snv 7.2E-05 1.0E-04 0.010 1.000 1 1998 1998
dbSNP: rs142408232
rs142408232
CPE
1 1.000 0.040 4 165484478 missense variant C/G;T snv 1.2E-05; 3.8E-04 0.010 1.000 1 2008 2008