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: rs142371860
rs142371860
3 0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04 0.700 1.000 1 2013 2013
dbSNP: rs146412095
rs146412095
1 2 26450086 splice donor variant G/A;T snv 8.1E-05; 4.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs745800344
rs745800344
1 2 26444221 splice acceptor variant G/T snv 8.0E-06 7.0E-06 0.700 0