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rs121909238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.3 Macrocephaly/autism syndrome
Make rs121909238(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position87933037
GenePTEN
is asnp
is mentioned by
dbSNPrs121909238
dbSNP (classic)rs121909238
ClinGenrs121909238
ebirs121909238
HLIrs121909238
Exacrs121909238
Gnomadrs121909238
Varsomers121909238
LitVarrs121909238
Maprs121909238
PheGenIrs121909238
Biobankrs121909238
1000 genomesrs121909238
hgdprs121909238
ensemblrs121909238
geneviewrs121909238
scholarrs121909238
googlers121909238
pharmgkbrs121909238
gwascentralrs121909238
openSNPrs121909238
23andMers121909238
SNPshotrs121909238
SNPdbers121909238
MSV3drs121909238
GWAS Ctlgrs121909238
Max Magnitude6.3
OMIM601728
Desc
Variant0037
Relatedalso
ClinVar
Risk rs121909238(G;G)
Alt rs121909238(G;G)
Reference Rs121909238(A;A)
Significance Pathogenic
Disease Macrocephaly/autism syndrome
Variation info
Gene PTEN
CLNDBN Macrocephaly/autism syndrome
Reversed 0
HGVS NC_000010.10:g.89692794A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008298.2,