WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893882
rs104893882
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104893883
rs104893883
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		C 0.800 CausalMutation CLINVAR
dbSNP: rs199946797
rs199946797
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs199946797
rs199946797
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs28937893
rs28937893
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28937893
rs28937893
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT
dbSNP: rs372855769
rs372855769
Entrez Id: 7466;107986257
Gene Symbol: WFS1;LOC107986257
WFS1;LOC107986257
CUI: C4551693
Disease:
Wolfram Syndrome 1 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs387906930
rs387906930
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C3280358
Disease:
Wolfram-Like Syndrome, Autosomal Dominant 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387906931
rs387906931
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C3280358
Disease:
Wolfram-Like Syndrome, Autosomal Dominant 		A 0.800 CausalMutation CLINVAR
dbSNP: rs398123066
rs398123066
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C3805412
Disease:
CATARACT 41 		0.800 GeneticVariation UNIPROT
dbSNP: rs398123066
rs398123066
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C3805412
Disease:
CATARACT 41 		G 0.800 CausalMutation CLINVAR
dbSNP: rs74315205
rs74315205
Entrez Id: 7466;107986257
Gene Symbol: WFS1;LOC107986257
WFS1;LOC107986257
CUI: C3280358
Disease:
Wolfram-Like Syndrome, Autosomal Dominant 		A 0.800 CausalMutation CLINVAR
dbSNP: rs71539673
rs71539673
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C3280358
Disease:
Wolfram-Like Syndrome, Autosomal Dominant 		A 0.710 CausalMutation CLINVAR
dbSNP: rs104893879
rs104893879
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104893880
rs104893880
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893881
rs104893881
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1323852277
rs1323852277
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1833021
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.700 GeneticVariation UNIPROT
dbSNP: rs1362648752
rs1362648752
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		AGGGCCGTCGCGAGGCT 0.700 CausalMutation CLINVAR
dbSNP: rs145639028
rs145639028
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs147974629
rs147974629
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs1553876668
rs1553876668
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199910987
rs199910987
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs28937890
rs28937890
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs28937891
rs28937891
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs28937892
rs28937892
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C4551693
Disease:
Wolfram Syndrome 1 		T 0.700 CausalMutation CLINVAR