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: rs587777036
rs587777036
PHC1
3 0.925 0.120 12 8939418 missense variant C/T snv 0.800 1.000 1 2013 2013