rs112795301, FOXP1

N. diseases: 13
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.
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.776 0.160 3 70972634 stop gained G/A snv 0.710 1.000 1 2019 2019
Abnormality of skin adnexa morphology
2 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
Hair whorls
CUI: C1185616
Disease: Hair whorls
5 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
MEGALENCEPHALY, AUTOSOMAL DOMINANT
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
5 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
22 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
Partial or complete agenesis of corpus callosum
6 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
Persistent cavum septum pellucidum
CUI: C1840380
Disease: Persistent cavum septum pellucidum
2 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019