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.
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
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
Onion bulb formation
CUI: C1847906
Disease: Onion bulb formation
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
Peripheral hypomyelination
CUI: C4024927
Disease: Peripheral hypomyelination
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
Progressive ventriculomegaly
CUI: C1865119
Disease: Progressive ventriculomegaly
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
Undetectable visual evoked potentials
CUI: C1850069
Disease: Undetectable visual evoked potentials
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
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
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
Late closure of anterior fontanel
CUI: C3840083
Disease: Late closure of anterior fontanel
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
Underdeveloped supraorbital ridges
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
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
High anterior hairline
CUI: C3276036
Disease: High anterior hairline
3 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Hypoplastic fifth fingernail
CUI: C4024682
Disease: Hypoplastic fifth fingernail
3 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
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
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
Premature birth following premature rupture of fetal membranes
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
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
Shallow orbits
CUI: C1865244
Disease: Shallow orbits
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
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
Retinal depigmentation
CUI: C0151891
Disease: Retinal depigmentation
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 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
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
7 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
8 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