rs61495246, CYP2R1

N. diseases: 2
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 Hydroxylation-Deficient Rickets, Type 1B
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
1 0.925 0.200 11 14885847 missense variant A/G snv 2.4E-04 1.0E-03 0.800 0
Rickets
CUI: C0035579
Disease: Rickets
16 0.925 0.200 11 14885847 missense variant A/G snv 2.4E-04 1.0E-03 0.010 1.000 1 2017 2017