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rs786205228

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205228(C;T)
Make rs786205228(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position52212718
GenePPP2R1A
is asnp
is mentioned by
dbSNPrs786205228
ebirs786205228
HLIrs786205228
Exacrs786205228
Varsomers786205228
Maprs786205228
PheGenIrs786205228
hapmaprs786205228
1000 genomesrs786205228
hgdprs786205228
ensemblrs786205228
gopubmedrs786205228
geneviewrs786205228
scholarrs786205228
googlers786205228
pharmgkbrs786205228
gwascentralrs786205228
openSNPrs786205228
23andMers786205228
23andMe allrs786205228
SNP Nexus

SNPshotrs786205228
SNPdbers786205228
MSV3drs786205228
GWAS Ctlgrs786205228
Max Magnitude0
ClinVar
Risk rs786205228(T;T)
Alt rs786205228(T;T)
Reference rs786205228(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PPP2R1A
CLNDBN Mental retardation, autosomal dominant 36
Reversed 0
HGVS NC_000019.9:g.52715971C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170501.3,