rs121908310

Orientation

minus

Stabilized

minus

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

Make rs121908310(G;T)

Make rs121908310(T;T)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155235760

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908310
dbSNP (classic)	rs121908310
ClinGen	rs121908310
ebi	rs121908310
HLI	rs121908310
Exac	rs121908310
Gnomad	rs121908310
Varsome	rs121908310
LitVar	rs121908310
Map	rs121908310
PheGenI	rs121908310
Biobank	rs121908310
1000 genomes	rs121908310
hgdp	rs121908310
ensembl	rs121908310
geneview	rs121908310
scholar	rs121908310
google	rs121908310
pharmgkb	rs121908310
gwascentral	rs121908310
openSNP	rs121908310
23andMe	rs121908310
SNPshot	rs121908310
SNPdbe	rs121908310
MSV3d	rs121908310
GWAS Ctlg	rs121908310

Max Magnitude

0

OMIM	606463
Desc
Variant	0039
Related	also

ClinVar
Risk	rs121908310(T;T)
Alt	rs121908310(T;T)
Reference	Rs121908310(G;G)
Significance	Pathogenic
Disease	Gaucher disease
Variation	info
Gene	GBA
CLNDBN	Gaucher disease, perinatal lethal
Reversed	1
HGVS	NC_000001.10:g.155205551C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004544.3,