TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
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: rs1237955948
rs1237955948 		1.000 0.120 21 42382235 splice acceptor variant C/A;T snv 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1429442821
rs1429442821 		1.000 0.120 21 42380116 splice donor variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs181949335
rs181949335 		0.925 0.120 21 42382101 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2007 2017
dbSNP: rs139805921
rs139805921 		1.000 0.120 21 42388935 missense variant G/A snv 2.1E-04 1.0E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs145913750
rs145913750 		21 42383169 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2007 2007