rs758723288, ECHS1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
24 0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016