rs1060505041, NACC1

N. diseases: 34
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.
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
CUI: C4479333
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
1 0.716 0.400 19 13136099 missense variant C/A;T snv 0.800 1.000 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 1.000 3 2014 2017
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
8 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
CATARACT 5, MULTIPLE TYPES
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
9 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Delayed myelination
CUI: C1277241
Disease: Delayed myelination
6 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Echogenic intracardiac focus
CUI: C4023634
Disease: Echogenic intracardiac focus
1 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Exaggerated cupid's bow
CUI: C1850629
Disease: Exaggerated cupid's bow
6 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Generalized myoclonic seizures
CUI: C4021759
Disease: Generalized myoclonic seizures
8 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Oropharyngeal Dysphagia
CUI: C0267071
Disease: Oropharyngeal Dysphagia
8 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0