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: rs754609693
rs754609693 		0.925 0.040 10 133366967 missense variant G/A snv 1.6E-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 0
dbSNP: rs770931871
rs770931871 		1.000 10 133369924 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 0
dbSNP: rs775650144
rs775650144 		1.000 10 133362911 missense variant G/A 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: rs777218310
rs777218310 		0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 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: rs786204002
rs786204002 		1.000 10 133369901 splice region variant C/G snv
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 0
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: rs587776497
rs587776497 		0.925 0.120 10 133373332 start lost A/C;G snv 1.0E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587776498
rs587776498 		0.925 0.120 10 133373329 missense variant G/A;C snv 1.0E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 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: rs754609693
rs754609693 		0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 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: 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: 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: rs754609693
rs754609693 		0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
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