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: rs966221
rs966221
PDE4D
2 1.000 0.080 5 60206693 intron variant A/G snv 0.57 0.050 0.800 5 2005 2020
dbSNP: rs17222919
rs17222919
ALOX5AP
2 1.000 0.080 13 30734192 intron variant T/A;G snv 0.040 0.750 4 2011 2019
dbSNP: rs10744777
rs10744777
ALDH2
1 1.000 0.080 12 111795214 intron variant T/C snv 0.53 0.720 1.000 3 2014 2018
dbSNP: rs10947803
rs10947803
KCNK17
2 1.000 0.080 6 39302834 intron variant C/A snv 0.030 1.000 3 2010 2014
dbSNP: rs2230500
rs2230500
PRKCH
5 0.925 0.080 14 61457521 missense variant G/A snv 3.1E-02 1.6E-02 0.030 1.000 3 2009 2014
dbSNP: rs4044210
rs4044210
CELSR1
3 0.925 0.080 22 46390418 missense variant T/A;C snv 4.0E-06; 0.17 0.030 1.000 3 2009 2015
dbSNP: rs6007897
rs6007897
CELSR1
3 0.925 0.080 22 46384624 missense variant T/C snv 0.16 0.28 0.030 1.000 3 2009 2015
dbSNP: rs918592
rs918592
PDE4D
2 1.000 0.080 5 60401476 intron variant C/T snv 0.36 0.030 0.667 3 2012 2016
dbSNP: rs11196288
rs11196288 		2 1.000 0.080 10 113297684 regulatory region variant A/G snv 5.5E-02 0.710 1.000 2 2016 2017
dbSNP: rs12204590
rs12204590
LINC01394 ; LOC112267978
3 1.000 0.080 6 1337158 intergenic variant T/A snv 0.14 0.020 0.500 2 2016 2017
dbSNP: rs12563308
rs12563308
ANGPTL3 ; DOCK7
2 0.925 0.080 1 62604040 missense variant T/A;C snv 1.9E-02 0.020 1.000 2 2018 2019
dbSNP: rs152312
rs152312
PDE4D ; PART1
3 0.925 0.080 5 60491989 non coding transcript exon variant G/A;T snv 0.020 0.500 2 2019 2020
dbSNP: rs1671021
rs1671021
LLGL2
2 1.000 0.080 17 75569090 missense variant T/C snv 0.36 0.50 0.020 1.000 2 2009 2011
dbSNP: rs16924159
rs16924159
IL33 ; LOC107987046
1 1.000 0.080 9 6229417 intron variant G/A snv 0.28 0.020 1.000 2 2013 2019
dbSNP: rs17222814
rs17222814
ALOX5AP
1 1.000 0.080 13 30725416 intron variant G/A snv 6.9E-02 0.020 0.500 2 2008 2019
dbSNP: rs2910829
rs2910829
PDE4D
3 0.925 0.080 5 60174072 intron variant G/A snv 0.52 0.020 1.000 2 2016 2019
dbSNP: rs3842788
rs3842788
PTGS1
1 1.000 0.080 9 122377927 splice acceptor variant G/A snv 4.6E-02 9.5E-02 0.020 1.000 2 2011 2019
dbSNP: rs750593479
rs750593479
FGB
2 1.000 0.080 4 154565881 missense variant C/T snv 8.0E-06 0.020 1.000 2 2016 2016
dbSNP: rs1017119
rs1017119
C5
1 1.000 0.080 9 121045260 intron variant T/C snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs10204475
rs10204475
UBR3
1 1.000 0.080 2 170076012 intron variant T/G snv 0.78 0.010 1.000 1 2010 2010
dbSNP: rs10400694
rs10400694 		1 1.000 0.080 14 84147550 intergenic variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10431036
rs10431036
BCO2
1 1.000 0.080 11 112176338 5 prime UTR variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10435816
rs10435816
IL33
2 1.000 0.080 9 6225535 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10487667
rs10487667
TBXAS1
1 1.000 0.080 7 139984244 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1051922
rs1051922
IFNB1
1 1.000 0.080 9 21077717 synonymous variant G/A snv 0.33 0.35 0.010 1.000 1 2020 2020