rs863225094, PPP2R1A

N. diseases: 10
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
5 0.827 0.160 19 52213076 missense variant G/A snv 0.800 1.000 2 2015 2015
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
Impaired use of nonverbal behaviors
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
5 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0