rs1554699491, AGTPBP1

N. diseases: 23
Source: CLINVAR ×
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.
Areflexia of lower limbs
CUI: C1856694
Disease: Areflexia of lower limbs
4 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Bell-shaped thorax
CUI: C1865186
Disease: Bell-shaped thorax
7 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
66 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
46 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
38 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Fasciculation, Tongue
CUI: C0239548
Disease: Fasciculation, Tongue
7 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Hypometric saccades
CUI: C0423082
Disease: Hypometric saccades
4 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
42 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
CUI: C4748934
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
8 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Overfolding of the superior helices
CUI: C1865304
Disease: Overfolding of the superior helices
7 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Polyneuropathy, Motor
CUI: C0271683
Disease: Polyneuropathy, Motor
3 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
19 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
10 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Restrictive ventilatory defect
CUI: C3277226
Disease: Restrictive ventilatory defect
8 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
23 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
Uplifted earlobe
CUI: C1856117
Disease: Uplifted earlobe
3 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0