WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6 ×
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: rs104893882
rs104893882 		1.000 0.120 4 6301696 missense variant A/C;G snv 8.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 9 2001 2014
dbSNP: rs104893883
rs104893883 		1.000 0.120 4 6302281 missense variant T/C snv
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 9 2001 2014
dbSNP: rs28937893
rs28937893 		0.925 0.120 4 6301941 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs121912618
rs121912618 		1.000 0.120 4 6302371 missense variant G/A;T snv 2.0E-05
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2001 2014
dbSNP: rs141328044
rs141328044 		1.000 0.120 4 6302130 missense variant G/A;T snv 1.7E-03; 4.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2001 2014
dbSNP: rs142668478
rs142668478 		0.925 0.120 4 6301849 missense variant G/A;C;T snv 1.8E-04; 4.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2001 2014
dbSNP: rs201064551
rs201064551 		1.000 0.120 4 6301752 missense variant C/G;T snv 7.2E-04
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2001 2014
dbSNP: rs758281375
rs758281375 		1.000 0.120 4 6291247 missense variant G/A;C snv 9.6E-05; 4.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2001 2014
dbSNP: rs74315205
rs74315205 		0.807 0.360 4 6302385 missense variant G/A snv
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1323852277
rs1323852277 		0.925 0.120 4 6301903 missense variant G/A snv 7.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs28937895
rs28937895 		1.000 0.120 4 6302287 missense variant G/A;C snv 8.1E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0