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: rs137854500
rs137854500
ABCA1
1.000 0.120 9 104814154 missense variant C/T snv 2.4E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.800 1.000 20 1999 2013