ECHS1, enoyl-CoA hydratase, short chain 1, 1892

N. diseases: 93; N. variants: 26
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: rs201865375
rs201865375 		1.000 10 133370670 missense variant T/C snv 3.6E-05 7.0E-06
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 1.000 6 2014 2016
dbSNP: rs375032130
rs375032130 		1.000 10 133368961 missense variant T/C snv 1.1E-04 9.8E-05
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 1.000 6 2014 2016
dbSNP: rs786204001
rs786204001 		1.000 10 133368964 missense variant G/T snv
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 1.000 6 2014 2016
dbSNP: rs864309656
rs864309656 		1.000 10 133369905 missense variant G/A;T snv
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 1.000 6 2014 2016
dbSNP: rs587776498
rs587776498 		0.925 0.120 10 133373329 missense variant G/A;C snv 1.0E-05
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.800 0
dbSNP: rs777218310
rs777218310 		0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 14 2014 2018
dbSNP: rs777218310
rs777218310 		0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 2014 2018
dbSNP: rs777218310
rs777218310 		0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2014 2018
dbSNP: rs1085307550
rs1085307550 		1.000 10 133370578 missense variant C/T snv 7.0E-06
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 1.000 6 2014 2016
dbSNP: rs1426014295
rs1426014295 		1.000 10 133370617 missense variant C/G;T snv 8.1E-06; 4.0E-06
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 1.000 6 2014 2016
dbSNP: rs761989177
rs761989177 		1.000 10 133366925 missense variant C/T snv 1.2E-05 5.6E-05
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 1.000 6 2014 2016
dbSNP: rs769429279
rs769429279 		1.000 10 133366042 missense variant A/G snv 4.0E-06
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 1.000 6 2014 2016
dbSNP: rs7100433
rs7100433 		10 133370298 intron variant T/C snv 0.98
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7100433
rs7100433 		10 133370298 intron variant T/C snv 0.98
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7100433
rs7100433 		10 133370298 intron variant T/C snv 0.98
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs758723288
rs758723288 		0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs758723288
rs758723288 		0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs758723288
rs758723288 		0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs758723288
rs758723288 		0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 1.000 1 2016 2016
dbSNP: rs7894051
rs7894051 		10 133370917 intron variant C/A;G snv
CUI: C0023980
Disease: Longevity
Longevity 		0.700 1.000 1 2015 2015
dbSNP: rs1318391499
rs1318391499 		1.000 10 133366039 missense variant C/T snv 8.0E-06
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 0
dbSNP: rs150321966
rs150321966 		0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs150321966
rs150321966 		0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 0
dbSNP: rs150321966
rs150321966 		0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554885530
rs1554885530 		1.000 10 133362883 frameshift variant -/TT delins
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 0