Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.800 1.000 2 2015 2015
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0