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rs397515452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515452(A;T)
Make rs397515452(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98459725
GeneHPSE2
is asnp
is mentioned by
dbSNPrs397515452
ebirs397515452
HLIrs397515452
Exacrs397515452
Varsomers397515452
Maprs397515452
PheGenIrs397515452
hapmaprs397515452
1000 genomesrs397515452
hgdprs397515452
ensemblrs397515452
gopubmedrs397515452
geneviewrs397515452
scholarrs397515452
googlers397515452
pharmgkbrs397515452
gwascentralrs397515452
openSNPrs397515452
23andMers397515452
23andMe allrs397515452
SNP Nexus

SNPshotrs397515452
SNPdbers397515452
MSV3drs397515452
GWAS Ctlgrs397515452
Max Magnitude0
ClinVar
Risk rs397515452(T;T)
Alt rs397515452(T;T)
Reference rs397515452(A;A)
Significance Pathogenic
Disease Ochoa syndrome
Variation info
Gene HPSE2
CLNDBN Ochoa syndrome
Reversed 1
HGVS NC_000010.10:g.100219482T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054516.2,