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: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.020 1.000 2 2010 2014
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2014 2017
dbSNP: rs9909004
rs9909004
PRKCA
2 0.925 0.040 17 66310015 intron variant C/T snv 0.59 0.020 1.000 2 2017 2019
dbSNP: rs10189761
rs10189761 		4 0.882 0.120 2 646364 intergenic variant T/A snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs1028728
rs1028728
POSTN
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10423928
rs10423928
GIPR
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs10501920
rs10501920
CNTN5
3 0.882 0.080 11 99622442 intron variant C/G snv 0.14 0.010 1.000 1 2007 2007
dbSNP: rs10519210
rs10519210 		1 1.000 0.040 15 63445726 intergenic variant T/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs10932374
rs10932374
ERBB4
2 0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs11006544
rs11006544
LOC107984235
3 1.000 0.040 10 59510886 intergenic variant T/C snv 7.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs11110004
rs11110004
ANKS1B
3 1.000 0.040 12 99694540 intron variant T/C snv 5.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs11172782
rs11172782 		1 1.000 0.040 12 58865846 intergenic variant A/G snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs112434206
rs112434206 		3 1.000 0.040 5 33083283 intron variant A/C;G snv 7.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs113235453
rs113235453
NUBPL
3 1.000 0.040 14 31849939 intron variant A/G snv 3.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2009 2009
dbSNP: rs114821210
rs114821210 		3 1.000 0.040 5 166089843 intergenic variant C/A snv 6.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs121918090
rs121918090
TTR
8 0.790 0.240 18 31593026 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs121918598
rs121918598
RYR2
4 0.851 0.080 1 237648523 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs12310617
rs12310617 		16 0.851 0.120 12 3060327 intergenic variant C/T snv 0.11 0.700 1.000 1 2016 2016