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: rs779739455
rs779739455
DMD
2 0.925 0.120 X 31968451 splice acceptor variant C/A;G snv 5.5E-06 0.700 0
dbSNP: rs863225016
rs863225016
DMD
1 1.000 0.120 X 32849821 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs886042840
rs886042840
DMD
2 0.925 0.120 X 31178789 inframe deletion TCT/- delins 0.700 0
dbSNP: rs886043375
rs886043375
DMD
2 0.925 0.120 X 31169543 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs16863247
rs16863247 		2 0.925 0.160 1 162535706 regulatory region variant A/G snv 4.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800309
rs1800309
GAA
3 0.882 0.160 17 80113242 missense variant G/A;C snv 5.6E-02; 4.4E-06 0.010 1.000 1 2018 2018
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
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: rs749989940
rs749989940
DMD
1 1.000 0.120 X 32545253 missense variant C/T snv 5.5E-06 0.010 1.000 1 2018 2018