rs886041116, ADNP

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.776 0.240 20 50892526 stop gained G/A snv 0.700 1.000 11 2001 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.776 0.240 20 50892526 stop gained G/A snv 0.700 1.000 11 2001 2017
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
16 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.776 0.240 20 50892526 stop gained G/A snv 0.010 1.000 1 2019 2019
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.776 0.240 20 50892526 stop gained G/A snv 0.010 1.000 1 2019 2019