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rs267606866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606866(C;T)
Make rs267606866(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98482733
GeneHPSE2
is asnp
is mentioned by
dbSNPrs267606866
ebirs267606866
HLIrs267606866
Exacrs267606866
Varsomers267606866
Maprs267606866
PheGenIrs267606866
hapmaprs267606866
1000 genomesrs267606866
hgdprs267606866
ensemblrs267606866
gopubmedrs267606866
geneviewrs267606866
scholarrs267606866
googlers267606866
pharmgkbrs267606866
gwascentralrs267606866
openSNPrs267606866
23andMers267606866
23andMe allrs267606866
SNP Nexus

SNPshotrs267606866
SNPdbers267606866
MSV3drs267606866
GWAS Ctlgrs267606866
Max Magnitude0
ClinVar
Risk rs267606866(T;T)
Alt rs267606866(T;T)
Reference rs267606866(C;C)
Significance Pathogenic
Disease Ochoa syndrome
Variation info
Gene HPSE2
CLNDBN Ochoa syndrome
Reversed 1
HGVS NC_000010.10:g.100242490G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000103.2,