rs28942109, SAR1B

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.
Chylomicron retention disease
CUI: C0795956
Disease: Chylomicron retention disease
6 0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05 0.800 1.000 5 2003 2009
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2009 2009
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
22 0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2009 2009