Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28937314
rs28937314
ABCA1
1.000 0.120 9 104822521 missense variant T/C;G snv
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.800 1.000 0 1999 2013