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rs397514559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514559(A;A)
Make rs397514559(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position87952125
GenePTEN
is asnp
is mentioned by
dbSNPrs397514559
ebirs397514559
HLIrs397514559
Exacrs397514559
Varsomers397514559
Maprs397514559
PheGenIrs397514559
hapmaprs397514559
1000 genomesrs397514559
hgdprs397514559
ensemblrs397514559
gopubmedrs397514559
geneviewrs397514559
scholarrs397514559
googlers397514559
pharmgkbrs397514559
gwascentralrs397514559
openSNPrs397514559
23andMers397514559
23andMe allrs397514559
SNP Nexus

SNPshotrs397514559
SNPdbers397514559
MSV3drs397514559
GWAS Ctlgrs397514559
Max Magnitude0
ClinVar
Risk rs397514559(A;A)
Alt rs397514559(A;A)
Reference rs397514559(C;C)
Significance Pathogenic
Disease Macrocephaly/autism syndrome
Variation info
Gene PTEN
CLNDBN Macrocephaly/autism syndrome
Reversed 0
HGVS NC_000010.10:g.89711882C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032872.3,