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: 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: rs370588269
rs370588269
GATA4
1 8 11756964 missense variant G/A snv 2.4E-05 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs4646156
rs4646156
ACE2
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2006 2006
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: 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: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs3742264
rs3742264
CPB2 ; CPB2-AS1
17 0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35 0.010 1.000 1 2003 2003
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: rs63751001
rs63751001
ABCC6
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs10911021
rs10911021
LINC01344 ; LOC105371642
11 0.807 0.160 1 182112825 intron variant C/T snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs72653744
rs72653744
ABCC6
14 0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs7667298
rs7667298
KDR
7 0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs72650700
rs72650700
ABCC6
12 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-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: 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: rs28939702
rs28939702
ABCC6
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 0.700 0
dbSNP: rs63749856
rs63749856
ABCC6
11 0.851 0.200 16 16155010 missense variant C/T snv 4.8E-05 2.8E-05 0.700 0
dbSNP: rs63750459
rs63750459
ABCC6
13 0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 0.700 0
dbSNP: rs63750759
rs63750759
ABCC6
11 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
dbSNP: rs72650699
rs72650699
ABCC6
12 0.851 0.280 16 16202045 stop gained G/A snv 4.8E-05 1.8E-04 0.700 0
dbSNP: rs72653762
rs72653762
ABCC6
13 0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 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