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: rs398122394
rs398122394
ALG13
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1232880706
rs1232880706
FBN1
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs137854539
rs137854539
GNAS
28 0.716 0.520 20 58903703 missense variant C/T 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: rs104894347
rs104894347
FGF23
3 0.925 0.200 12 4370572 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014