rs121908302

Orientation

minus

Stabilized

minus

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

Make rs121908302(T;T)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155240033

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908302
dbSNP (classic)	rs121908302
ClinGen	rs121908302
ebi	rs121908302
HLI	rs121908302
Exac	rs121908302
Gnomad	rs121908302
Varsome	rs121908302
LitVar	rs121908302
Map	rs121908302
PheGenI	rs121908302
Biobank	rs121908302
1000 genomes	rs121908302
hgdp	rs121908302
ensembl	rs121908302
geneview	rs121908302
scholar	rs121908302
google	rs121908302
pharmgkb	rs121908302
gwascentral	rs121908302
openSNP	rs121908302
23andMe	rs121908302
SNPshot	rs121908302
SNPdbe	rs121908302
MSV3d	rs121908302
GWAS Ctlg	rs121908302

Max Magnitude

3

OMIM	606463
Desc
Variant	0024
Related	also

ClinVar
Risk	rs121908302(T;T)
Alt	rs121908302(T;T)
Reference	Rs121908302(G;G)
Significance	Pathogenic
Disease	Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155209824C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004556.5,