rs121965086

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs121965086(C;C)

Make rs121965086(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

89225168

Gene

LIPA

is a	snp
is	mentioned by
dbSNP	rs121965086
dbSNP (classic)	rs121965086
ClinGen	rs121965086
ebi	rs121965086
HLI	rs121965086
Exac	rs121965086
Gnomad	rs121965086
Varsome	rs121965086
LitVar	rs121965086
Map	rs121965086
PheGenI	rs121965086
Biobank	rs121965086
1000 genomes	rs121965086
hgdp	rs121965086
ensembl	rs121965086
geneview	rs121965086
scholar	rs121965086
google	rs121965086
pharmgkb	rs121965086
gwascentral	rs121965086
openSNP	rs121965086
23andMe	rs121965086
SNPshot	rs121965086
SNPdbe	rs121965086
MSV3d	rs121965086
GWAS Ctlg	rs121965086

Max Magnitude

0

OMIM	613497
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000000095.2, RCV000000096.2,