OSBPL2, oxysterol binding protein like 2, 9885

N. diseases: 7; N. variants: 3
Disease: DEAFNESS, AUTOSOMAL DOMINANT 67 ×
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: rs786205880
rs786205880 		1.000 20 62260096 frameshift variant TC/- delins
CUI: C4084712
Disease: DEAFNESS, AUTOSOMAL DOMINANT 67
DEAFNESS, AUTOSOMAL DOMINANT 67 		0.700 0
dbSNP: rs786205881
rs786205881 		1.000 20 62260084 frameshift variant TG/- del
CUI: C4084712
Disease: DEAFNESS, AUTOSOMAL DOMINANT 67
DEAFNESS, AUTOSOMAL DOMINANT 67 		0.700 0