COL4A6, collagen type IV alpha 6 chain, 1288

N. diseases: 43; N. variants: 10
Disease: DEAFNESS, X-LINKED 6 ×
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: rs779748859
rs779748859 		1.000 X 108187279 missense variant C/T snv 1.4E-05 2.8E-05
CUI: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6 		0.800 0