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: rs1057518956
rs1057518956
3 0.925 0.080 10 31520308 stop gained C/T snv 0.700 0
dbSNP: rs148957473
rs148957473
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs369865672
rs369865672
1 1.000 0.080 20 25081924 missense variant G/A snv 8.8E-04 8.6E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs74315433
rs74315433
3 0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03 0.010 1.000 1 2005 2005