rs886041091, NTRK2

N. diseases: 18
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
1 0.807 0.120 9 84751990 missense variant A/G snv 0.800 0
Ankle clonus
CUI: C0238651
Disease: Ankle clonus
5 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Anti-multiple nuclear dots antibody positivity
CUI: C4476723
Disease: Anti-multiple nuclear dots antibody positivity
1 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Attenuation of retinal blood vessels
CUI: C3278975
Disease: Attenuation of retinal blood vessels
2 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
EEG with continuous slow activity
CUI: C4023470
Disease: EEG with continuous slow activity
1 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Episodic vomiting
CUI: C1838993
Disease: Episodic vomiting
10 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Hamartoma
CUI: C0018552
Disease: Hamartoma
8 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Increased muscle fatiguability
CUI: C4025573
Disease: Increased muscle fatiguability
3 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Reduced brain N-acetyl aspartate level by MRS
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
8 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Rotary Nystagmus
CUI: C0240595
Disease: Rotary Nystagmus
3 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0