WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram-Like Syndrome, Autosomal Dominant ×
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: rs387906930
rs387906930 		0.790 0.360 4 6301846 missense variant C/G;T snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2006 2011
dbSNP: rs387906931
rs387906931 		0.925 0.360 4 6302133 missense variant G/A snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2006 2011
dbSNP: rs74315205
rs74315205 		0.807 0.360 4 6302385 missense variant G/A snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2006 2011
dbSNP: rs71539673
rs71539673 		0.925 0.320 4 6302220 missense variant G/A snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2016 2016
dbSNP: rs876657675
rs876657675 		1.000 0.320 4 6302303 missense variant G/C snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0