DES, desmin, 1674

N. diseases: 330; N. variants: 63
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: rs267607491
rs267607491 		1.000 0.160 2 219425956 missense variant G/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 20 1998 2017
dbSNP: rs57694264
rs57694264 		1.000 0.160 2 219421517 missense variant G/A snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 20 1998 2017
dbSNP: rs60798368
rs60798368 		0.925 0.160 2 219418508 missense variant C/T snv 7.0E-06
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 20 1998 2017
dbSNP: rs150974575
rs150974575 		1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 9 2000 2013
dbSNP: rs150974575
rs150974575 		1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 9 2000 2013
dbSNP: rs150974575
rs150974575 		1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 9 2000 2013
dbSNP: rs267607483
rs267607483 		1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 7 2000 2013
dbSNP: rs267607483
rs267607483 		1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 2000 2013
dbSNP: rs61726467
rs61726467 		0.882 0.160 2 219421553 stop gained G/A;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 6 2007 2016
dbSNP: rs727504448
rs727504448 		2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 5 2000 2012
dbSNP: rs727504448
rs727504448 		2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 5 2000 2012
dbSNP: rs62636495
rs62636495 		0.925 0.200 2 219418500 missense variant C/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 4 2007 2009
dbSNP: rs121913002
rs121913002 		0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		Cardiovascular Diseases 0.700 1.000 3 1999 2016
dbSNP: rs397516695
rs397516695 		0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		Cardiovascular Diseases 0.700 1.000 3 1999 2016
dbSNP: rs397516698
rs397516698 		1.000 0.160 2 219420347 splice donor variant G/A;C;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 3 2000 2013
dbSNP: rs267607495
rs267607495 		2 219418497 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs267607495
rs267607495 		2 219418497 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs730880289
rs730880289 		1.000 0.160 2 219420158 splice region variant AG/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1057523274
rs1057523274 		1.000 0.160 2 219418463 start lost A/G snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1060503165
rs1060503165 		1.000 0.160 2 219418856 stop gained C/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1114167327
rs1114167327 		1.000 0.040 2 219425706 frameshift variant ACGG/- delins
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		Cardiovascular Diseases 0.700 0
dbSNP: rs1114167332
rs1114167332 		1.000 0.040 2 219418955 protein altering variant CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT delins
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		Cardiovascular Diseases 0.700 0
dbSNP: rs1400593451
rs1400593451 		1.000 0.080 2 219418827 missense variant A/G;T snv 5.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1411703397
rs1411703397 		1.000 0.160 2 219421359 missense variant A/C;T snv 4.0E-06
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553603239
rs1553603239 		1.000 0.160 2 219418792 inframe deletion GCAGGAGCT/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0