TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: JOUBERT SYNDROME 6 ×
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: rs137853107
rs137853107 		0.882 0.360 8 93791282 missense variant A/G;T snv 8.0E-06; 4.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 6 2007 2015