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rs397515338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs397515338(-;-)
Make rs397515338(-;AA)
ReferenceGRCh38 38.1/141
Chromosome10
Position98490051
GeneHPSE2
is asnp
is mentioned by
dbSNPrs397515338
ebirs397515338
HLIrs397515338
Exacrs397515338
Varsomers397515338
Maprs397515338
PheGenIrs397515338
hapmaprs397515338
1000 genomesrs397515338
hgdprs397515338
ensemblrs397515338
gopubmedrs397515338
geneviewrs397515338
scholarrs397515338
googlers397515338
pharmgkbrs397515338
gwascentralrs397515338
openSNPrs397515338
23andMers397515338
23andMe allrs397515338
SNP Nexus

SNPshotrs397515338
SNPdbers397515338
MSV3drs397515338
GWAS Ctlgrs397515338
Max Magnitude0
ClinVar
Risk rs397515338(;)
Alt rs397515338(;)
Reference rs397515338(AA;AA)
Significance Pathogenic
Disease Ochoa syndrome
Variation info
Gene HPSE2
CLNDBN Ochoa syndrome
Reversed 1
HGVS NC_000010.10:g.100249808_100249809delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000104.2,