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: rs72664233
rs72664233
ABCC6
10 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2014 2014
dbSNP: rs66864704
rs66864704
ABCC6
10 0.882 0.280 16 16188907 missense variant A/G snv 1.2E-04 3.6E-04 0.700 0
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4646156
rs4646156
ACE2
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs72653769
rs72653769
ABCC6
6 1.000 0.160 16 16190315 missense variant A/T snv 8.0E-06 0.700 0
dbSNP: rs769437554
rs769437554
ABCC6
6 0.925 0.200 16 16165784 inframe deletion AAG/- delins 1.2E-05 0.700 0
dbSNP: rs72664204
rs72664204
ABCC6
9 0.925 0.200 16 16203407 splice donor variant AC/- delins 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1555514467
rs1555514467
ABCC6
6 1.000 0.160 16 16188897 frameshift variant AG/- delins 0.700 0
dbSNP: rs72664239
rs72664239
ABCC6
6 0.925 0.200 16 16150646 frameshift variant C/- delins 0.700 0
dbSNP: rs72664227
rs72664227
ABCC6
7 0.925 0.200 16 16182875 frameshift variant C/-;CC delins 7.0E-06 0.700 0
dbSNP: rs72664209
rs72664209
ABCC6
12 0.827 0.240 16 16173283 splice donor variant C/A snv 8.0E-06; 1.2E-04 1.7E-04 0.700 0
dbSNP: rs63750622
rs63750622
ABCC6
9 0.925 0.200 16 16154898 missense variant C/A;G;T snv 4.1E-06; 4.1E-06; 1.6E-05 0.700 0
dbSNP: rs761433545
rs761433545
ABCC6
8 0.925 0.200 16 16187192 missense variant C/A;G;T snv 2.0E-05 0.700 0
dbSNP: rs114303883
rs114303883
ABCC6
8 1.000 0.160 16 16182534 stop gained C/A;T snv 9.1E-05 4.2E-05 0.700 0
dbSNP: rs199473620
rs199473620
SCN5A
2 1.000 0.080 3 38554372 stop gained C/A;T snv 0.700 0
dbSNP: rs72653784
rs72653784
ABCC6
5 1.000 0.160 16 16182562 missense variant C/A;T snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs146243018
rs146243018
GATA6
1 18 22200698 missense variant C/G snv 2.5E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs281432
rs281432
ICAM1
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1555512158
rs1555512158
ABCC6
6 0.925 0.200 16 16177554 missense variant C/G snv 0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs72664203
rs72664203
ABCC6
6 1.000 0.160 16 16219948 splice acceptor variant C/G snv 0.700 0
dbSNP: rs60791294
rs60791294
ABCC6
11 0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05 0.700 0
dbSNP: rs63750410
rs63750410
ABCC6
9 0.882 0.240 16 16155007 missense variant C/G;T snv 6.0E-06; 1.2E-05 0.700 0