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 0.700 0
dbSNP: rs121909800
rs121909800
VDR
6 0.807 0.360 12 47844859 missense variant G/A;T snv 0.030 1.000 3 1996 2017
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2017 2017
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
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: rs121909799
rs121909799
VDR
2 0.925 0.200 12 47846418 missense variant A/C snv 5.4E-06 0.010 1.000 1 1996 1996
dbSNP: rs121909801
rs121909801
VDR
2 0.925 0.200 12 47879026 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 1998 1998
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: 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: rs886037890
rs886037890
VDR
2 0.925 0.200 12 47844840 missense variant T/G snv 0.010 1.000 1 2017 2017