rs779027563, CNTNAP1

N. diseases: 58
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.
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
13 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.800 1.000 4 2016 2018
Abnormality of subcutaneous fat tissue
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
1 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Abnormality of the helix
CUI: C1856660
Disease: Abnormality of the helix
2 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Absence of stomach bubble on fetal sonography
CUI: C4023625
Disease: Absence of stomach bubble on fetal sonography
1 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Atrophy of corpus callosum
CUI: C0431370
Disease: Atrophy of corpus callosum
2 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Broad eyebrow
CUI: C1856121
Disease: Broad eyebrow
4 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Bulbar palsy
CUI: C4082299
Disease: Bulbar palsy
5 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Cerebellar vermis atrophy
CUI: C0742028
Disease: Cerebellar vermis atrophy
6 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
13 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Decreased nerve conduction velocity
CUI: C1857640
Disease: Decreased nerve conduction velocity
5 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Delayed CNS myelination
CUI: C4021758
Disease: Delayed CNS myelination
4 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Elevated brain lactate level by MRS
CUI: C4022762
Disease: Elevated brain lactate level by MRS
2 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Facial diplegia
CUI: C1836003
Disease: Facial diplegia
4 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Hand clenching
CUI: C0239815
Disease: Hand clenching
9 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017