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: rs1379871
rs1379871 		X 31836665 intron variant G/A;C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs6631478
rs6631478 		X 32074263 intron variant T/C snv 0.26
CUI: C1328319
Disease: Ankle brachial pressure index (observable entity)
Ankle brachial pressure index (observable entity) 		0.700 1.000 1 2019 2019
dbSNP: rs769985775
rs769985775 		0.851 0.160 X 32448630 synonymous variant T/C snv 5.7E-06 9.5E-06
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 1.000 1 2017 2017
dbSNP: rs778171516
rs778171516 		0.925 0.160 X 32595795 missense variant C/T snv 5.5E-06
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		0.010 1.000 1 2007 2007
dbSNP: rs104894788
rs104894788 		1.000 X 31180437 missense variant C/T snv
CUI: C4016476
Disease: DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE 		0.700 0
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: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
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: 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: rs128626240
rs128626240 		1.000 X 32614347 stop gained C/A snv
CUI: C4016477
Disease: INTERMEDIATE MUSCULAR DYSTROPHY
INTERMEDIATE MUSCULAR DYSTROPHY 		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: rs1556880327
rs1556880327 		X 31774182 frameshift variant -/T delins
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		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: rs1557315928
rs1557315928 		X 32380517 stop gained C/T snv
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.700 0
dbSNP: rs1557315928
rs1557315928 		X 32380517 stop gained C/T snv
CUI: C4022648
Disease: Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber dystrophin expression 		0.700 0
dbSNP: rs201217593
rs201217593 		0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		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: rs886039785
rs886039785 		0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0234182
Disease: Gowers sign
Gowers sign 		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