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

N. diseases: 93; N. variants: 26
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY ×
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: 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: 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: 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: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		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
dbSNP: rs1554886769
rs1554886769 		1.000 10 133373260 missense 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: rs371063211
rs371063211 		1.000 10 133370649 missense variant A/G snv 4.0E-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: rs371582393
rs371582393 		1.000 10 133368949 missense variant G/A snv 3.6E-05 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: rs375266808
rs375266808 		1.000 10 133370685 missense variant C/A;T snv 4.0E-06; 2.0E-05
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 0
dbSNP: rs565090080
rs565090080 		1.000 10 133362924 missense variant T/C snv 2.4E-05 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: rs587776497
rs587776497 		0.925 0.120 10 133373332 start lost A/C;G snv 1.0E-05
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		0.700 0
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