rs863225081

plus

Geno	Mag	Summary
(A;G)	8	Neurodevelopmental disorder-associated mutation
(G;G)	0	common in clinvar

Make rs863225081(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

43007262

Gene	MEA1, PPP2R5D

is a	snp
is	mentioned by
dbSNP	rs863225081
dbSNP (classic)	rs863225081
ClinGen	rs863225081
ebi	rs863225081
HLI	rs863225081
Exac	rs863225081
Gnomad	rs863225081
Varsome	rs863225081
LitVar	rs863225081
Map	rs863225081
PheGenI	rs863225081
Biobank	rs863225081
1000 genomes	rs863225081
hgdp	rs863225081
ensembl	rs863225081
geneview	rs863225081
scholar	rs863225081
google	rs863225081
pharmgkb	rs863225081
gwascentral	rs863225081
openSNP	rs863225081
23andMe	rs863225081
SNPshot	rs863225081
SNPdbe	rs863225081
MSV3d	rs863225081
GWAS Ctlg	rs863225081

Max Magnitude

8

PPP2R5D gene, aka c.589G>A, p.Glu197Lys, and E197K

Considered to be a de novo (dominant) missense variant associated with intellectual disability, macrocephaly, hypotonia, and autism; see ClinVar and [PMID 26576547 ] as well as links on PPP2R5D page

ClinVar
Risk	rs863225081(A;A)
Alt	rs863225081(A;A)
Reference	Rs863225081(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	PPP2R5D MEA1
CLNDBN	not provided
Reversed	0
HGVS	NC_000006.11:g.42975000G>A
CLNSRC
CLNACC	RCV000202284.1,