Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515352
rs397515352
CLN6
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		CG 0.700 CausalMutation CLINVAR CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 23735787

2013