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: rs875989883
rs875989883
PHEX ; PTCHD1-AS
9 0.851 0.280 X 22219070 missense variant G/A;C snv 0.800 1.000 11 1997 2015
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22219071 missense variant G/A;T snv 0.700 1.000 8 1997 2000
dbSNP: rs137853269
rs137853269
PHEX
1 1.000 0.200 X 22047116 missense variant G/A snv 0.800 1.000 8 1997 2000
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22212922 missense variant T/C snv 0.800 1.000 8 1997 2000
dbSNP: rs1556014287
rs1556014287
PHEX
1 1.000 0.200 X 22047115 missense variant T/C snv 0.800 1.000 8 1997 2000
dbSNP: rs1556091855
rs1556091855
PHEX
1 1.000 0.200 X 22190447 missense variant G/C snv 0.800 1.000 8 1997 2000
dbSNP: rs1556135308
rs1556135308
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22219053 missense variant C/A snv 0.800 1.000 8 1997 2000
dbSNP: rs1556151526
rs1556151526
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22227581 missense variant C/A snv 0.700 1.000 8 1997 2000
dbSNP: rs1556200989
rs1556200989
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22245340 missense variant G/A snv 0.800 1.000 8 1997 2000
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
dbSNP: rs267606945
rs267606945
PHEX
1 1.000 0.200 X 22094005 missense variant T/C snv 0.700 1.000 8 1997 2000
dbSNP: rs267606946
rs267606946
PHEX
1 1.000 0.200 X 22094009 missense variant G/A snv 0.700 1.000 8 1997 2000
dbSNP: rs11646213
rs11646213 		6 0.827 0.320 16 82609046 intergenic variant A/T snv 0.47 0.010 1.000 1 2009 2009
dbSNP: rs116548533
rs116548533
CYP24A1
4 0.851 0.280 20 54159083 missense variant C/A;T snv 4.0E-06; 4.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs121909796
rs121909796
VDR
5 0.827 0.200 12 47846743 missense variant C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121909800
rs121909800
VDR
6 0.807 0.360 12 47844859 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs139280106
rs139280106
RELB
4 0.851 0.280 19 45032712 missense variant C/G;T snv 5.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs1569442206
rs1569442206
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22245402 stop gained C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs377423996
rs377423996
VDR
4 0.851 0.280 12 47845002 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
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: rs780229030
rs780229030
RELB
4 0.851 0.280 19 45032710 missense variant A/C snv 0.010 1.000 1 2006 2006
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
dbSNP: rs1057517981
rs1057517981
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22247901 missense variant G/A;C snv 0.700 0
dbSNP: rs1057521800
rs1057521800
PHEX ; PTCHD1-AS
1 1.000 0.200 X 22219074 missense variant A/G snv 0.700 0