rs80356765

Orientation

minus

Stabilized

minus

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

Make rs80356765(A;A)

Make rs80356765(A;G)

Reference

GRCh37.p5 37.3/137

Chromosome

1

Position

155236340

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs80356765
dbSNP (classic)	rs80356765
ClinGen	rs80356765
ebi	rs80356765
HLI	rs80356765
Exac	rs80356765
Gnomad	rs80356765
Varsome	rs80356765
LitVar	rs80356765
Map	rs80356765
PheGenI	rs80356765
Biobank	rs80356765
1000 genomes	rs80356765
hgdp	rs80356765
ensembl	rs80356765
geneview	rs80356765
scholar	rs80356765
google	rs80356765
pharmgkb	rs80356765
gwascentral	rs80356765
openSNP	rs80356765
23andMe	rs80356765
SNPshot	rs80356765
SNPdbe	rs80356765
MSV3d	rs80356765
GWAS Ctlg	rs80356765

Max Magnitude

0

ClinVar
Risk	rs80356765(A;A)
Alt	rs80356765(A;A)
Reference	Rs80356765(G;G)
Significance	Untested
Disease	Gaucher's disease Subacute neuronopathic Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1 Subacute neuronopathic Gaucher's disease
Reversed	1
HGVS	NC_000001.10:g.155206131C>T
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000024745.1, SCV000024745.1, SCV000024745.1, SCV000024746.1, SCV000024746.1, SCV000024746.1,

[PMID 10466427] Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.