Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556206403
rs1556206403
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22247948 missense variant T/C snv 0.800 1.000 8 1997 2000