TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Meckel syndrome type 3 ×
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: rs386834188
rs386834188 		1.000 0.280 8 93755075 missense variant A/G snv 7.0E-06
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2006 2011