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rs267606864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606864(C;T)
Make rs267606864(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98490103
GeneHPSE2
is asnp
is mentioned by
dbSNPrs267606864
ebirs267606864
HLIrs267606864
Exacrs267606864
Varsomers267606864
Maprs267606864
PheGenIrs267606864
hapmaprs267606864
1000 genomesrs267606864
hgdprs267606864
ensemblrs267606864
gopubmedrs267606864
geneviewrs267606864
scholarrs267606864
googlers267606864
pharmgkbrs267606864
gwascentralrs267606864
openSNPrs267606864
23andMers267606864
23andMe allrs267606864
SNP Nexus

SNPshotrs267606864
SNPdbers267606864
MSV3drs267606864
GWAS Ctlgrs267606864
Max Magnitude0
ClinVar
Risk rs267606864(G,T;G,T)
Alt rs267606864(G,T;G,T)
Reference rs267606864(C;C)
Significance Pathogenic
Disease Ochoa syndrome
Variation info
Gene HPSE2
CLNDBN Ochoa syndrome
Reversed 1
HGVS NC_000010.10:g.100249860G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000108.2,