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: rs398123909
rs398123909
DMD
3 0.882 0.160 X 32472310 splice acceptor variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs748537564
rs748537564
CLCN1
3 0.882 0.160 7 143345595 missense variant C/A;T snv 9.5E-05 0.010 1.000 1 1999 1999
dbSNP: rs104894787
rs104894787
DMD
3 0.882 0.160 X 31178784 stop gained G/A snv 0.700 0
dbSNP: rs128627256
rs128627256
DMD
3 0.882 0.160 X 31478330 stop gained G/A snv 0.700 0
dbSNP: rs398123832
rs398123832
DMD
3 0.882 0.160 X 31178721 stop gained G/A snv 0.700 0
dbSNP: rs398123929
rs398123929
DMD
3 0.882 0.160 X 32468509 stop gained G/A snv 0.700 0
dbSNP: rs398123935
rs398123935
DMD
3 0.882 0.160 X 32463576 stop gained 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: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017