rs121908305

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs121908305(A;A)

Make rs121908305(A;G)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155236379

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908305
dbSNP (classic)	rs121908305
ClinGen	rs121908305
ebi	rs121908305
HLI	rs121908305
Exac	rs121908305
Gnomad	rs121908305
Varsome	rs121908305
LitVar	rs121908305
Map	rs121908305
PheGenI	rs121908305
Biobank	rs121908305
1000 genomes	rs121908305
hgdp	rs121908305
ensembl	rs121908305
geneview	rs121908305
scholar	rs121908305
google	rs121908305
pharmgkb	rs121908305
gwascentral	rs121908305
openSNP	rs121908305
23andMe	rs121908305
SNPshot	rs121908305
SNPdbe	rs121908305
MSV3d	rs121908305
GWAS Ctlg	rs121908305

Max Magnitude

0

OMIM	606463
Desc
Variant	0030
Related	also

ClinVar
Risk	rs121908305(A;A)
Alt	rs121908305(A;A)
Reference	Rs121908305(G;G)
Significance	Pathogenic
Disease	Acute neuronopathic Gaucher's disease not provided Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Acute neuronopathic Gaucher's disease not provided Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155206170C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004562.3, RCV000079331.3, RCV000180535.1,