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: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
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: rs1481200467
rs1481200467
ABCC6
7 0.925 0.200 16 16173393 stop gained G/C;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1553603732
rs1553603732
DES
10 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
dbSNP: rs1555512158
rs1555512158
ABCC6
6 0.925 0.200 16 16177554 missense variant C/G snv 0.700 0
dbSNP: rs1555513085
rs1555513085
ABCC6
8 0.925 0.200 16 16182486 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs1555514089
rs1555514089
ABCC6
4 0.925 0.200 16 16187213 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555514467
rs1555514467
ABCC6
6 1.000 0.160 16 16188897 frameshift variant AG/- delins 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: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A 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: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 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: rs63749794
rs63749794
ABCC6
7 0.925 0.160 16 16163159 missense variant G/A snv 9.2E-05 4.2E-05 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: 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: rs63750428
rs63750428
ABCC6
6 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-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: 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: 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: rs63751001
rs63751001
ABCC6
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs63751111
rs63751111
ABCC6
7 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0
dbSNP: rs63751241
rs63751241
ABCC6
12 0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0