rs121908306

Orientation

minus

Stabilized

minus

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

Make rs121908306(G;G)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155236328

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908306
dbSNP (classic)	rs121908306
ClinGen	rs121908306
ebi	rs121908306
HLI	rs121908306
Exac	rs121908306
Gnomad	rs121908306
Varsome	rs121908306
LitVar	rs121908306
Map	rs121908306
PheGenI	rs121908306
Biobank	rs121908306
1000 genomes	rs121908306
hgdp	rs121908306
ensembl	rs121908306
geneview	rs121908306
scholar	rs121908306
google	rs121908306
pharmgkb	rs121908306
gwascentral	rs121908306
openSNP	rs121908306
23andMe	rs121908306
SNPshot	rs121908306
SNPdbe	rs121908306
MSV3d	rs121908306
GWAS Ctlg	rs121908306

Max Magnitude

3

OMIM	606463
Desc
Variant	0031
Related	also

ClinVar
Risk	rs121908306(G;G)
Alt	rs121908306(G;G)
Reference	Rs121908306(T;T)
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.155206119A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004563.3,