Disease: PEHO 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: rs879255649
rs879255649 		1.000 0.080 2 55334506 frameshift variant A/- delins
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016