WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram-like 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: rs71539673
rs71539673 		0.925 0.320 4 6302220 missense variant G/A snv
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs74315205
rs74315205 		0.807 0.360 4 6302385 missense variant G/A snv
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018