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rs757369209

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs757369209(C;T)
Make rs757369209(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position43006514
GeneMEA1, PPP2R5D
is asnp
is mentioned by
dbSNPrs757369209
dbSNP (classic)rs757369209
ClinGenrs757369209
ebirs757369209
HLIrs757369209
Exacrs757369209
Gnomadrs757369209
Varsomers757369209
LitVarrs757369209
Maprs757369209
PheGenIrs757369209
Biobankrs757369209
1000 genomesrs757369209
hgdprs757369209
ensemblrs757369209
geneviewrs757369209
scholarrs757369209
googlers757369209
pharmgkbrs757369209
gwascentralrs757369209
openSNPrs757369209
23andMers757369209
SNPshotrs757369209
SNPdbers757369209
MSV3drs757369209
GWAS Ctlgrs757369209
Max Magnitude0
ClinVar
Risk rs757369209(A;A) rs757369209(T;T)
Alt rs757369209(A;A) rs757369209(T;T)
Reference Rs757369209(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PPP2R5D MEA1
CLNDBN Mental retardation, autosomal dominant 35
Reversed 0
HGVS NC_000006.11:g.42974252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201513.1,