rs137854498, ABCA1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Tangier Disease
CUI: C0039292
Disease: Tangier Disease
28 1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.710 1.000 20 1999 2013
TANGIER DISEASE, VARIANT
CUI: C4016640
Disease: TANGIER DISEASE, VARIANT
1 1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.700 0
Premature coronary artery atherosclerosis
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
43 1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2002 2002