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: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2019 2019
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 3 2017 2019
dbSNP: rs17782313
rs17782313 		34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.700 1.000 2 2010 2015
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.700 1.000 1 2019 2019
dbSNP: rs174547
rs174547
FADS1 ; FADS2
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.700 1.000 1 2019 2019
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.700 1.000 5 2010 2019
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.700 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 0.700 1.000 1 2019 2019
dbSNP: rs6570507
rs6570507
ADGRG6
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.700 1.000 4 2009 2019
dbSNP: rs3918226
rs3918226
NOS3
12 0.925 0.080 7 150993088 intron variant C/T snv 5.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs6567160
rs6567160 		12 1.000 0.080 18 60161902 upstream gene variant T/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs3791679
rs3791679
EFEMP1 ; LOC112268416
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 7 2008 2019
dbSNP: rs2247056
rs2247056
HLA-B ; LINC02571 ; LOC112267902
11 0.882 0.160 6 31297713 intron variant T/C snv 0.80 0.700 1.000 1 2013 2013
dbSNP: rs61776719
rs61776719 		11 0.776 0.120 1 37995647 downstream gene variant C/A snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs2277339
rs2277339
PRIM1 ; HSD17B6
10 12 56752285 missense variant T/G snv 0.12 0.14 0.700 1.000 2 2019 2019
dbSNP: rs185819
rs185819
TNXB
10 0.851 0.200 6 32082290 missense variant T/A;C;G snv 8.2E-06; 0.58; 4.1E-06 0.700 1.000 1 2008 2008
dbSNP: rs314276
rs314276
LIN28B
10 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.700 1.000 1 2017 2017