Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 1.000 4 1997 2015
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0544755
Disease: Genu varum
Genu varum 		0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C3665628
Disease: Hypomineralization of enamel of tooth
Hypomineralization of enamel of tooth 		0.700 0