Source: CLINVAR

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: rs1557315928
rs1557315928
DMD
X 32380517 stop gained C/T snv
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.700 0
dbSNP: rs1557315928
rs1557315928
DMD
X 32380517 stop gained C/T snv
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.700 0
dbSNP: rs1557315928
rs1557315928
DMD
X 32380517 stop gained C/T snv
CUI: C4022648
Disease: Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber dystrophin expression 		0.700 0
dbSNP: rs1557315928
rs1557315928
DMD
X 32380517 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0