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rs121965086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965086(C;C)
Make rs121965086(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position89225168
GeneLIPA
is asnp
is mentioned by
dbSNPrs121965086
ebirs121965086
HLIrs121965086
Exacrs121965086
Varsomers121965086
Maprs121965086
PheGenIrs121965086
hapmaprs121965086
1000 genomesrs121965086
hgdprs121965086
ensemblrs121965086
gopubmedrs121965086
geneviewrs121965086
scholarrs121965086
googlers121965086
pharmgkbrs121965086
gwascentralrs121965086
openSNPrs121965086
23andMers121965086
23andMe allrs121965086
SNP Nexus

SNPshotrs121965086
SNPdbers121965086
MSV3drs121965086
GWAS Ctlgrs121965086
Max Magnitude0
OMIM613497
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121965086(C;C)
Alt rs121965086(C;C)
Reference rs121965086(T;T)
Significance Pathogenic
Disease Wolman disease Lysosomal acid lipase deficiency
Variation info
Gene LIPA
CLNDBN Wolman disease Lysosomal acid lipase deficiency
Reversed 1
HGVS NC_000010.10:g.90984925A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000095.2, RCV000000096.2,