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rs267607218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607218(G;T)
Make rs267607218(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position89223710
GeneLIPA
is asnp
is mentioned by
dbSNPrs267607218
ebirs267607218
HLIrs267607218
Exacrs267607218
Varsomers267607218
Maprs267607218
PheGenIrs267607218
hapmaprs267607218
1000 genomesrs267607218
hgdprs267607218
ensemblrs267607218
gopubmedrs267607218
geneviewrs267607218
scholarrs267607218
googlers267607218
pharmgkbrs267607218
gwascentralrs267607218
openSNPrs267607218
23andMers267607218
23andMe allrs267607218
SNP Nexus

SNPshotrs267607218
SNPdbers267607218
MSV3drs267607218
GWAS Ctlgrs267607218
Max Magnitude0
ClinVar
Risk rs267607218(T;T)
Alt rs267607218(T;T)
Reference rs267607218(G;G)
Significance Pathogenic
Disease Lysosomal acid lipase deficiency
Variation info
Gene LIPA
CLNDBN Lysosomal acid lipase deficiency
Reversed 1
HGVS NC_000010.10:g.90983467C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000097.2,