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: rs560191
rs560191
12 0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06 0.010 1.000 1 2015 2015