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rs797045094

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045094(C;T)
Make rs797045094(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position89228375
GeneLIPA
is asnp
is mentioned by
dbSNPrs797045094
ebirs797045094
HLIrs797045094
Exacrs797045094
Varsomers797045094
Maprs797045094
PheGenIrs797045094
hapmaprs797045094
1000 genomesrs797045094
hgdprs797045094
ensemblrs797045094
gopubmedrs797045094
geneviewrs797045094
scholarrs797045094
googlers797045094
pharmgkbrs797045094
gwascentralrs797045094
openSNPrs797045094
23andMers797045094
23andMe allrs797045094
SNP Nexus

SNPshotrs797045094
SNPdbers797045094
MSV3drs797045094
GWAS Ctlgrs797045094
Max Magnitude0
ClinVar
Risk rs797045094(T;T)
Alt rs797045094(T;T)
Reference rs797045094(C;C)
Significance Pathogenic
Disease Lysosomal acid lipase deficiency
Variation info
Gene LIPA
CLNDBN Lysosomal acid lipase deficiency
Reversed 1
HGVS NC_000010.10:g.90988132G>A
CLNSRC
CLNACC RCV000190602.1,