SMIM12, small integral membrane protein 12, 113444

N. diseases: 15; N. variants: 30
Disease: hearing impairment ×
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: rs1557659237
rs1557659237 		1.000 0.120 1 34784770 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs74315319
rs74315319 		1.000 0.120 1 34785300 stop gained C/T snv 8.8E-05 3.5E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2005 2017
dbSNP: rs28937583
rs28937583 		0.925 0.080 1 34784863 missense variant T/C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs74315318
rs74315318 		0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005