rs121909796, VDR

N. diseases: 5
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 2A
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
15 0.827 0.200 12 47846743 missense variant C/A snv 0.800 1.000 12 1988 2017
Rickets
CUI: C0035579
Disease: Rickets
16 0.827 0.200 12 47846743 missense variant C/A snv 0.020 1.000 2 2002 2018
Familial Hypophosphatemic Rickets
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
15 0.827 0.200 12 47846743 missense variant C/A snv 0.010 1.000 1 2017 2017
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
122 0.827 0.200 12 47846743 missense variant C/A snv 0.010 1.000 1 2017 2017
Vitamin D-resistant rickets
CUI: C2363065
Disease: Vitamin D-resistant rickets
6 0.827 0.200 12 47846743 missense variant C/A snv 0.010 1.000 1 2017 2017