RPGRIP1L, RPGRIP1 like, 23322

N. diseases: 15; N. variants: 38
Disease: COACH syndrome ×
Source: CURATED ×
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: rs267607020
rs267607020 		0.925 0.360 16 53652712 missense variant A/G snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.800 1.000 2 2010 2011
dbSNP: rs121918203
rs121918203 		0.882 0.360 16 53645694 stop gained G/A snv 2.0E-05 4.9E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918204
rs121918204 		0.827 0.360 16 53652637 stop gained G/A snv 6.4E-05 2.1E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs145665129
rs145665129 		0.925 0.360 16 53645895 stop gained G/A snv 1.6E-05 7.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0