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rs876657383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876657383(C;G)
Make rs876657383(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position43007275
GeneMEA1, PPP2R5D
is asnp
is mentioned by
dbSNPrs876657383
dbSNP (classic)rs876657383
ClinGenrs876657383
ebirs876657383
HLIrs876657383
Exacrs876657383
Gnomadrs876657383
Varsomers876657383
LitVarrs876657383
Maprs876657383
PheGenIrs876657383
Biobankrs876657383
1000 genomesrs876657383
hgdprs876657383
ensemblrs876657383
geneviewrs876657383
scholarrs876657383
googlers876657383
pharmgkbrs876657383
gwascentralrs876657383
openSNPrs876657383
23andMers876657383
SNPshotrs876657383
SNPdbers876657383
MSV3drs876657383
GWAS Ctlgrs876657383
Max Magnitude0
ClinVar
Risk rs876657383(G;G)
Alt rs876657383(G;G)
Reference Rs876657383(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.42975013C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000170483.4,