rs121908314

Orientation

minus

Stabilized

minus

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

Make rs121908314(G;G)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155235841

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908314
dbSNP (classic)	rs121908314
ClinGen	rs121908314
ebi	rs121908314
HLI	rs121908314
Exac	rs121908314
Gnomad	rs121908314
Varsome	rs121908314
LitVar	rs121908314
Map	rs121908314
PheGenI	rs121908314
Biobank	rs121908314
1000 genomes	rs121908314
hgdp	rs121908314
ensembl	rs121908314
geneview	rs121908314
scholar	rs121908314
google	rs121908314
pharmgkb	rs121908314
gwascentral	rs121908314
openSNP	rs121908314
23andMe	rs121908314
SNPshot	rs121908314
SNPdbe	rs121908314
MSV3d	rs121908314
GWAS Ctlg	rs121908314

Max Magnitude

3

OMIM	606463
Desc
Variant	0045
Related	also

ClinVar
Risk	rs121908314(G;G)
Alt	rs121908314(G;G)
Reference	Rs121908314(C;C)
Significance	Pathogenic
Disease	Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155205632G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004578.2,