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: rs104894178
rs104894178
PHYH
3 0.882 0.160 10 13283695 missense variant G/A snv 1.9E-04 7.0E-05 0.700 0
dbSNP: rs201578674
rs201578674
PHYH
2 0.925 0.120 10 13295608 splice acceptor variant T/C snv 1.0E-04 1.7E-04 0.700 0