DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: rs1057518962
rs1057518962
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
0.700 0
dbSNP: rs1557315928
rs1557315928
X 32380517 stop gained C/T snv
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
0.700 0
dbSNP: rs886039785
rs886039785
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
0.700 0
dbSNP: rs886043676
rs886043676
X 31178766 frameshift variant G/- del
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
0.700 0