rs121908308

Orientation

minus

Stabilized

minus

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

Make rs121908308(G;G)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155236295

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908308
dbSNP (classic)	rs121908308
ClinGen	rs121908308
ebi	rs121908308
HLI	rs121908308
Exac	rs121908308
Gnomad	rs121908308
Varsome	rs121908308
LitVar	rs121908308
Map	rs121908308
PheGenI	rs121908308
Biobank	rs121908308
1000 genomes	rs121908308
hgdp	rs121908308
ensembl	rs121908308
geneview	rs121908308
scholar	rs121908308
google	rs121908308
pharmgkb	rs121908308
gwascentral	rs121908308
openSNP	rs121908308
23andMe	rs121908308
SNPshot	rs121908308
SNPdbe	rs121908308
MSV3d	rs121908308
GWAS Ctlg	rs121908308

Max Magnitude

3

OMIM	606463
Desc
Variant	0035
Related	also

ClinVar
Risk	rs121908308(G;G)
Alt	rs121908308(G;G)
Reference	Rs121908308(C;C)
Significance	Pathogenic
Disease	Subacute neuronopathic Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Subacute neuronopathic Gaucher's disease
Reversed	1
HGVS	NC_000001.10:g.155206086G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004567.5,