rs118204007, CYP27B1

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.
Vitamin D-dependent rickets, type 1
CUI: C0268689
Disease: Vitamin D-dependent rickets, type 1
21 1.000 0.200 12 57764755 missense variant G/C snv 0.800 0