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rs121965087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965087(C;G)
Make rs121965087(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position89245776
GeneLIPA
is asnp
is mentioned by
dbSNPrs121965087
ebirs121965087
HLIrs121965087
Exacrs121965087
Varsomers121965087
Maprs121965087
PheGenIrs121965087
hapmaprs121965087
1000 genomesrs121965087
hgdprs121965087
ensemblrs121965087
gopubmedrs121965087
geneviewrs121965087
scholarrs121965087
googlers121965087
pharmgkbrs121965087
gwascentralrs121965087
openSNPrs121965087
23andMers121965087
23andMe allrs121965087
SNP Nexus

SNPshotrs121965087
SNPdbers121965087
MSV3drs121965087
GWAS Ctlgrs121965087
Max Magnitude0
OMIM613497
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121965087(G;G)
Alt rs121965087(G;G)
Reference rs121965087(C;C)
Significance Pathogenic
Disease Wolman disease
Variation info
Gene LIPA
CLNDBN Wolman disease
Reversed 1
HGVS NC_000010.10:g.91005533G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000102.2,