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: rs755686699
rs755686699
PHEX ; PTCHD1-AS
3 0.882 0.200 X 22221653 stop gained G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs797044787
rs797044787
L1CAM
4 0.851 0.240 X 153870123 synonymous variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs886039584
rs886039584
PHEX
3 0.882 0.200 X 22114493 stop gained G/A snv 0.010 1.000 1 2019 2019