SMIM12, small integral membrane protein 12, 113444

N. diseases: 15; N. variants: 30
Disease: Deafness, Autosomal Dominant 2B ×
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: rs74315318
rs74315318 		0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 1998 1998
dbSNP: rs74315320
rs74315320 		0.925 0.120 1 34785183 missense variant A/G snv
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 1998 1998