DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Creatine phosphokinase serum increased ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516028
rs1057516028 		X 32287680 stop gained G/A snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1114167437
rs1114167437 		X 31178681 frameshift variant T/- del
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1114167439
rs1114167439 		X 32438240 splice donor variant C/- delins
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1556880327
rs1556880327 		X 31774182 frameshift variant -/T delins
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1556980528
rs1556980528 		X 32738791 intron variant T/C snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs886039785
rs886039785 		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
dbSNP: rs886042604
rs886042604 		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: rs886044916
rs886044916 		X 31209534 missense variant T/C snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0