rs573951598, CYP27A1

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.
Xanthomatosis, Cerebrotendinous
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
71 0.882 0.200 2 218814408 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 6 2000 2012
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
42 0.882 0.200 2 218814408 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.882 0.200 2 218814408 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017