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: C0029442
Disease: Osteomalacia
Osteomalacia 		0.700 0