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: rs1057518896
rs1057518896
PHEX ; PTCHD1-AS
3 1.000 0.080 X 22247868 stop gained -/AACT delins 0.700 0
dbSNP: rs143814221
rs143814221
GHR
8 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1565256477
rs1565256477
MMP13
4 0.925 0.120 11 102955402 missense variant A/G snv 0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
9 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
dbSNP: rs886043613
rs886043613
FGFR3
4 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0