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rs267606865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606865(C;T)
Make rs267606865(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position99144391
GeneHPSE2
is asnp
is mentioned by
dbSNPrs267606865
ebirs267606865
HLIrs267606865
Exacrs267606865
Varsomers267606865
Maprs267606865
PheGenIrs267606865
hapmaprs267606865
1000 genomesrs267606865
hgdprs267606865
ensemblrs267606865
gopubmedrs267606865
geneviewrs267606865
scholarrs267606865
googlers267606865
pharmgkbrs267606865
gwascentralrs267606865
openSNPrs267606865
23andMers267606865
23andMe allrs267606865
SNP Nexus

SNPshotrs267606865
SNPdbers267606865
MSV3drs267606865
GWAS Ctlgrs267606865
Max Magnitude0
ClinVar
Risk rs267606865(T;T)
Alt rs267606865(T;T)
Reference rs267606865(C;C)
Significance Pathogenic
Disease Ochoa syndrome
Variation info
Gene HPSE2
CLNDBN Ochoa syndrome
Reversed 1
HGVS NC_000010.10:g.100904148G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000109.2,