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: rs28937890
rs28937890 		1.000 0.320 4 6301966 missense variant C/T snv 3.2E-05 7.0E-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: rs28937891
rs28937891 		1.000 0.320 4 6301879 missense variant G/A;T snv 4.8E-05; 8.0E-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: rs28937892
rs28937892 		1.000 0.320 4 6301306 missense variant C/A;T snv 4.0E-06; 3.6E-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: rs369107336
rs369107336 		1.000 0.320 4 6302164 stop gained C/A;G;T snv 3.3E-05; 1.9E-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 0
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: 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