TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Bardet-Biedl syndrome 1 (disorder) ×
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: rs749435317
rs749435317 		0.882 0.280 8 93786287 frameshift variant A/- del
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs386834180
rs386834180 		0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0