CLN6, CLN6 transmembrane ER protein, 54982

N. diseases: 59; N. variants: 46
Disease: Developmental regression ×
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: rs751486476
rs751486476 		0.925 0.160 15 68218549 missense variant C/T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0