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: rs1555514089
rs1555514089
ABCC6
4 0.925 0.200 16 16187213 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555520991
rs1555520991
ABCC6 ; LOC105371100
5 0.925 0.200 16 16212248 splice acceptor variant T/C snv 0.700 0
dbSNP: rs2856597
rs2856597
ABCC6
5 0.925 0.200 16 16219935 missense variant C/T snv 3.0E-04 0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
9 0.925 0.200 16 16159505 missense variant C/G snv 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: rs63750428
rs63750428
ABCC6
6 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 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: rs72653761
rs72653761
ABCC6
7 0.925 0.200 16 16202033 missense variant G/A snv 5.2E-05 6.3E-05 0.700 0
dbSNP: rs72653787
rs72653787
ABCC6
9 0.925 0.200 16 16178950 missense variant C/T snv 3.6E-05 3.5E-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: rs72664227
rs72664227
ABCC6
7 0.925 0.200 16 16182875 frameshift variant C/-;CC delins 7.0E-06 0.700 0
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: rs72664239
rs72664239
ABCC6
6 0.925 0.200 16 16150646 frameshift variant C/- delins 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: rs769437554
rs769437554
ABCC6
6 0.925 0.200 16 16165784 inframe deletion AAG/- delins 1.2E-05 0.700 0
dbSNP: rs776513864
rs776513864
ABCC6
6 0.925 0.200 16 16178920 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.700 0
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: 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
dbSNP: rs63751001
rs63751001
ABCC6
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs66492417
rs66492417
ABCC6
10 0.882 0.240 16 16178909 stop gained G/T snv 0.700 0
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: 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: 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: 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: rs281432
rs281432
ICAM1
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2015 2015