Source: UNIPROT

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: rs28937313
rs28937313
ABCA1
0.882 0.160 9 104822520 missense variant T/C snv 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.800 1.000 20 1999 2013