WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram Syndrome 1 ×
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: rs71524377
rs71524377 		1.000 0.320 4 6301914 missense variant G/A;T snv 4.0E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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
dbSNP: rs71532864
rs71532864 		1.000 0.320 4 6302001 missense variant G/A;C snv 3.3E-05; 4.1E-06
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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
dbSNP: rs746923441
rs746923441 		1.000 0.320 4 6300669 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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
dbSNP: rs777580652
rs777580652 		1.000 0.320 4 6300668 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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
dbSNP: rs1560408865
rs1560408865 		1.000 0.320 4 6289109 frameshift variant C/- delins
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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 1.000 1 2013 2013
dbSNP: rs752461187
rs752461187 		1.000 0.320 4 6291304 inframe insertion AAG/-;AAGAAG delins 7.0E-06
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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 1.000 1 2014 2014
dbSNP: rs797045076
rs797045076 		1.000 0.320 4 6302441 frameshift variant TCTT/- delins 1.2E-04
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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 1.000 1 2016 2016
dbSNP: rs1362648752
rs1362648752 		1.000 0.320 4 6289078 frameshift variant -/GGCCGTCGCGAGGCTG delins 4.4E-05 2.8E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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
dbSNP: rs797046112
rs797046112 		1.000 0.320 4 6301030 inframe deletion TTC/- delins 1.4E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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
dbSNP: rs797046113
rs797046113 		1.000 0.320 4 6301484 inframe deletion CCTCTT/- delins
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		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