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: 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: 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: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 0