rs376103091, EARS2

N. diseases: 10
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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
CUI: C3554079
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
14 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.800 0
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Tremor, Limb
CUI: C0235081
Disease: Tremor, Limb
3 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0