rs63750687, PSEN1

N. diseases: 33
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.
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.800 1.000 24 1995 2018
Abnormal conjugate eye movement
CUI: C1845274
Disease: Abnormal conjugate eye movement
5 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Abnormal posture
CUI: C0231471
Disease: Abnormal posture
7 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
11 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Abnormality of the outer ear
CUI: C1846460
Disease: Abnormality of the outer ear
8 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
Ankle clonus
CUI: C0238651
Disease: Ankle clonus
5 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Bilateral wrist flexion contracture
CUI: C4022899
Disease: Bilateral wrist flexion contracture
1 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Bradykinesia
CUI: C0233565
Disease: Bradykinesia
16 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Dementia
CUI: C0497327
Disease: Dementia
176 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Erythema
CUI: C0041834
Disease: Erythema
8 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Flexion contracture of finger
CUI: C1857304
Disease: Flexion contracture of finger
4 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Flexion contracture-shoulder
CUI: C0409336
Disease: Flexion contracture-shoulder
1 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Generalized hyperreflexia
CUI: C4024949
Disease: Generalized hyperreflexia
3 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Loss of speech
CUI: C0542223
Disease: Loss of speech
8 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Open mouth (finding)
CUI: C0240379
Disease: Open mouth (finding)
11 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014