Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199946797
rs199946797
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT

dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. 22226368

2012
dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. 21538838

2011
dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. 15605410

2005
dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. 11161832

2001
dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. 11295831

2001
dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. 10521293

1999
dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). 9771706

1998
dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. 9817917

1998
dbSNP: rs1402999203
rs1402999203
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. 22226368

2012
dbSNP: rs1402999203
rs1402999203
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. 21538838

2011
dbSNP: rs1402999203
rs1402999203
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. 15605410

2005
dbSNP: rs1402999203
rs1402999203
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. 11295831

2001
dbSNP: rs1402999203
rs1402999203
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. 11161832

2001
dbSNP: rs1402999203
rs1402999203
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. 10521293

1999
dbSNP: rs1402999203
rs1402999203
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. 9817917

1998
dbSNP: rs1402999203
rs1402999203
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). 9771706

1998
dbSNP: rs145639028
rs145639028
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs147974629
rs147974629
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs148953711
rs148953711
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. 22226368

2012
dbSNP: rs148953711
rs148953711
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. 21538838

2011
dbSNP: rs148953711
rs148953711
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. 15605410

2005
dbSNP: rs148953711
rs148953711
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. 11295831

2001
dbSNP: rs148953711
rs148953711
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. 11161832

2001
dbSNP: rs148953711
rs148953711
WFS1
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. 10521293

1999