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: rs17810398
rs17810398
1 1.000 0.040 2 158804358 missense variant C/A;G;T snv 8.2E-06; 0.10 0.010 1.000 1 2015 2015