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rs786205227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205227(C;T)
Make rs786205227(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position52212726
GenePPP2R1A
is asnp
is mentioned by
dbSNPrs786205227
dbSNP (classic)rs786205227
ClinGenrs786205227
ebirs786205227
HLIrs786205227
Exacrs786205227
Gnomadrs786205227
Varsomers786205227
LitVarrs786205227
Maprs786205227
PheGenIrs786205227
Biobankrs786205227
1000 genomesrs786205227
hgdprs786205227
ensemblrs786205227
geneviewrs786205227
scholarrs786205227
googlers786205227
pharmgkbrs786205227
gwascentralrs786205227
openSNPrs786205227
23andMers786205227
SNPshotrs786205227
SNPdbers786205227
MSV3drs786205227
GWAS Ctlgrs786205227
Max Magnitude0
ClinVar
Risk rs786205227(T;T)
Alt rs786205227(T;T)
Reference Rs786205227(C;C)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene PPP2R1A
CLNDBN Mental retardation, autosomal dominant 36 not provided
Reversed 0
HGVS NC_000019.9:g.52715979C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000170500.4, RCV000412854.1,