Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs965718917
rs965718917
DMD
1.000 0.120 X 31496826 missense variant C/T snv 1.6E-05 9.4E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.010 1.000 1 2011 2011
dbSNP: rs886044916
rs886044916
DMD
X 31209534 missense variant T/C snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs886044502
rs886044502
DMD
1.000 0.040 X 31180483 splice acceptor variant T/G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 4 2006 2016
dbSNP: rs886044455
rs886044455
DMD
1.000 0.040 X 32348510 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 0
dbSNP: rs886043989
rs886043989
DMD
0.925 0.160 X 31209497 splice donor variant C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 1993 2014
dbSNP: rs886043989
rs886043989
DMD
0.925 0.160 X 31209497 splice donor variant C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0
dbSNP: rs886043676
rs886043676
DMD
X 31178766 frameshift variant G/- del
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.700 0
dbSNP: rs886043676
rs886043676
DMD
X 31178766 frameshift variant G/- del
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		0.700 0
dbSNP: rs886043676
rs886043676
DMD
X 31178766 frameshift variant G/- del
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs886043375
rs886043375
DMD
0.925 0.120 X 31169543 frameshift variant G/-;GG delins
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.700 0
dbSNP: rs886043375
rs886043375
DMD
0.925 0.120 X 31169543 frameshift variant G/-;GG delins
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0
dbSNP: rs886043041
rs886043041
DMD
1.000 0.120 X 32343133 splice donor variant C/A snv 9.5E-06
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0
dbSNP: rs886042840
rs886042840
DMD
0.925 0.120 X 31178789 inframe deletion TCT/- delins
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0
dbSNP: rs886042840
rs886042840
DMD
0.925 0.120 X 31178789 inframe deletion TCT/- delins
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.700 0
dbSNP: rs886042747
rs886042747
DMD
1.000 0.120 X 32364596 stop gained C/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0
dbSNP: rs886042604
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0
dbSNP: rs886042604
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs886042604
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs886041344
rs886041344
DMD
1.000 0.120 X 32565829 stop gained G/C;T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0