rs397515355, 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 218814459 splice donor variant G/A;T snv 2.8E-05 0.700 1.000 7 1996 2017