Disease: Primary familial brain calcification ×
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: rs397515633
rs397515633 		0.925 0.040 22 39231633 stop gained G/A snv
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015