rs121908102, CYP27A1

N. diseases: 1
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 1.000 0.080 2 218813095 missense variant C/T snv 8.1E-05; 4.0E-06 1.1E-04 0.700 1.000 9 1994 2016