WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram 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: rs1309408215
rs1309408215 		1.000 0.320 4 6301423 missense variant T/G snv 4.0E-06
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		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 0.010 1.000 1 2005 2005
dbSNP: rs145639028
rs145639028 		0.925 0.320 4 6289047 missense variant G/A snv 2.2E-05 1.4E-05
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		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 0.010 1.000 1 2016 2016
dbSNP: rs1801208
rs1801208 		0.882 0.360 4 6301162 missense variant G/A snv 5.7E-02 5.0E-02
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		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 0.010 1.000 1 2000 2000
dbSNP: rs199946797
rs199946797 		0.882 0.360 4 6301467 missense variant C/A;T snv 6.7E-04
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		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 0.010 1.000 1 2012 2012
dbSNP: rs886044563
rs886044563 		1.000 0.320 4 6300732 missense variant C/T snv
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		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 0.010 1.000 1 2005 2005