rs121908312

Orientation

minus

Stabilized

minus

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

Make rs121908312(C;C)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155239716

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908312
dbSNP (classic)	rs121908312
ClinGen	rs121908312
ebi	rs121908312
HLI	rs121908312
Exac	rs121908312
Gnomad	rs121908312
Varsome	rs121908312
LitVar	rs121908312
Map	rs121908312
PheGenI	rs121908312
Biobank	rs121908312
1000 genomes	rs121908312
hgdp	rs121908312
ensembl	rs121908312
geneview	rs121908312
scholar	rs121908312
google	rs121908312
pharmgkb	rs121908312
gwascentral	rs121908312
openSNP	rs121908312
23andMe	rs121908312
SNPshot	rs121908312
SNPdbe	rs121908312
MSV3d	rs121908312
GWAS Ctlg	rs121908312

Max Magnitude

3

OMIM	606463
Desc
Variant	0043
Related	also

ClinVar
Risk	rs121908312(C;C)
Alt	rs121908312(C;C)
Reference	Rs121908312(G;G)
Significance	Pathogenic
Disease	Gaucher's disease Subacute neuronopathic Gaucher's disease not provided
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1 Subacute neuronopathic Gaucher's disease not provided
Reversed	1
HGVS	NC_000001.10:g.155209507C>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004575.4, RCV000004576.3, RCV000079344.3,