rs121908295

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;G)	3	Carrier of a Gaucher disease mutation

Make rs121908295(G;G)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155235708

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908295
dbSNP (classic)	rs121908295
ClinGen	rs121908295
ebi	rs121908295
HLI	rs121908295
Exac	rs121908295
Gnomad	rs121908295
Varsome	rs121908295
LitVar	rs121908295
Map	rs121908295
PheGenI	rs121908295
Biobank	rs121908295
1000 genomes	rs121908295
hgdp	rs121908295
ensembl	rs121908295
geneview	rs121908295
scholar	rs121908295
google	rs121908295
pharmgkb	rs121908295
gwascentral	rs121908295
openSNP	rs121908295
23andMe	rs121908295
SNPshot	rs121908295
SNPdbe	rs121908295
MSV3d	rs121908295
GWAS Ctlg	rs121908295

Max Magnitude

3

OMIM	606463
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908295(G;G)
Alt	rs121908295(G;G)
Reference	Rs121908295(C;C)
Significance	Pathogenic
Disease	Acute neuronopathic Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Acute neuronopathic Gaucher's disease
Reversed	1
HGVS	NC_000001.10:g.155205499G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004514.4,