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.
Hypophosphatemic Rickets, X-Linked Dominant
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
122 0.851 0.280 X 22219070 missense variant G/A;C snv 0.800 1.000 11 1997 2015
Familial Hypophosphatemic Rickets
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
15 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
Femoral bowing
CUI: C1859461
Disease: Femoral bowing
13 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
Genu varum
CUI: C0544755
Disease: Genu varum
6 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
Hypomineralization of enamel of tooth
CUI: C3665628
Disease: Hypomineralization of enamel of tooth
1 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
Hypophosphatemia
CUI: C0085682
Disease: Hypophosphatemia
5 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
Osteomalacia
CUI: C0029442
Disease: Osteomalacia
1 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
Serum alkaline phosphatase raised
CUI: C1314665
Disease: Serum alkaline phosphatase raised
6 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0