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rs397514560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514560(C;T)
Make rs397514560(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87933151
GenePTEN
is asnp
is mentioned by
dbSNPrs397514560
ebirs397514560
HLIrs397514560
Exacrs397514560
Varsomers397514560
Maprs397514560
PheGenIrs397514560
hapmaprs397514560
1000 genomesrs397514560
hgdprs397514560
ensemblrs397514560
gopubmedrs397514560
geneviewrs397514560
scholarrs397514560
googlers397514560
pharmgkbrs397514560
gwascentralrs397514560
openSNPrs397514560
23andMers397514560
23andMe allrs397514560
SNP Nexus

SNPshotrs397514560
SNPdbers397514560
MSV3drs397514560
GWAS Ctlgrs397514560
Max Magnitude0
ClinVar
Risk rs397514560(T;T)
Alt rs397514560(T;T)
Reference rs397514560(C;C)
Significance Pathogenic
Disease Macrocephaly/autism syndrome
Variation info
Gene PTEN
CLNDBN Macrocephaly/autism syndrome
Reversed 0
HGVS NC_000010.10:g.89692908C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032873.3,