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: rs72650700
rs72650700
ABCC6
12 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 1.000 3 2001 2016
dbSNP: rs28939701
rs28939701
ABCC6
12 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-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: 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: 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: 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