SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: CULLER-JONES SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.010 1.000 1 2017 2017