TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Meckel-Gruber 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: rs765468645
rs765468645 		0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016