CLRN1, clarin 1, 7401

N. diseases: 77; N. variants: 26
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: rs111033267
rs111033267 		0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121908143
rs121908143 		0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2004 2004