rs121908311

Orientation

minus

Stabilized

minus

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

Make rs121908311(A;A)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155235823

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908311
dbSNP (classic)	rs121908311
ClinGen	rs121908311
ebi	rs121908311
HLI	rs121908311
Exac	rs121908311
Gnomad	rs121908311
Varsome	rs121908311
LitVar	rs121908311
Map	rs121908311
PheGenI	rs121908311
Biobank	rs121908311
1000 genomes	rs121908311
hgdp	rs121908311
ensembl	rs121908311
geneview	rs121908311
scholar	rs121908311
google	rs121908311
pharmgkb	rs121908311
gwascentral	rs121908311
openSNP	rs121908311
23andMe	rs121908311
SNPshot	rs121908311
SNPdbe	rs121908311
MSV3d	rs121908311
GWAS Ctlg	rs121908311

Max Magnitude

3

OMIM	606463
Desc
Variant	0040
Related	also

ClinVar
Risk	rs121908311(A;A)
Alt	rs121908311(A;A)
Reference	Rs121908311(G;G)
Significance	Pathogenic
Disease	Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1 Subacute neuronopathic Gaucher's disease Gaucher disease
Reversed	1
HGVS	NC_000001.10:g.155205614C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004571.3, RCV000004572.3, RCV000055772.3,