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rs869320691

From SNPedia

Orientationplus
Stabilizedplus
Make rs869320691(A;A)
Make rs869320691(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position43007292
GeneMEA1, PPP2R5D
is asnp
is mentioned by
dbSNPrs869320691
dbSNP (classic)rs869320691
ClinGenrs869320691
ebirs869320691
HLIrs869320691
Exacrs869320691
Gnomadrs869320691
Varsomers869320691
LitVarrs869320691
Maprs869320691
PheGenIrs869320691
Biobankrs869320691
1000 genomesrs869320691
hgdprs869320691
ensemblrs869320691
geneviewrs869320691
scholarrs869320691
googlers869320691
pharmgkbrs869320691
gwascentralrs869320691
openSNPrs869320691
23andMers869320691
SNPshotrs869320691
SNPdbers869320691
MSV3drs869320691
GWAS Ctlgrs869320691
Max Magnitude0
ClinVar
Risk rs869320691(A;A) rs869320691(C;C)
Alt rs869320691(A;A) rs869320691(C;C)
Reference Rs869320691(T;T)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene PPP2R5D MEA1
CLNDBN Mental retardation, autosomal dominant 35 not provided
Reversed 0
HGVS NC_000006.11:g.42975030T>A; NC_000006.11:g.42975030T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201477.1, RCV000307513.1,