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: rs797045141
rs797045141
HERC1
5 0.882 0.160 15 63696341 splice acceptor variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1009298200
rs1009298200
ALG1
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs121918487
rs121918487
FGFR2
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs1568269273
rs1568269273
NFIX
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs369160589
rs369160589
ALG1
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs730882210
rs730882210
MATN4
6 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009