rs121908313

Orientation

minus

Stabilized

minus

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

Make rs121908313(A;A)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155237470

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908313
dbSNP (classic)	rs121908313
ClinGen	rs121908313
ebi	rs121908313
HLI	rs121908313
Exac	rs121908313
Gnomad	rs121908313
Varsome	rs121908313
LitVar	rs121908313
Map	rs121908313
PheGenI	rs121908313
Biobank	rs121908313
1000 genomes	rs121908313
hgdp	rs121908313
ensembl	rs121908313
geneview	rs121908313
scholar	rs121908313
google	rs121908313
pharmgkb	rs121908313
gwascentral	rs121908313
openSNP	rs121908313
23andMe	rs121908313
SNPshot	rs121908313
SNPdbe	rs121908313
MSV3d	rs121908313
GWAS Ctlg	rs121908313

Max Magnitude

3

OMIM	606463
Desc
Variant	0044
Related	also

ClinVar
Risk	rs121908313(A;A)
Alt	rs121908313(A;A)
Reference	Rs121908313(C;C)
Significance	Pathogenic
Disease	Gaucher disease
Variation	info
Gene	GBA
CLNDBN	Gaucher disease, perinatal lethal
Reversed	1
HGVS	NC_000001.10:g.155207261G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004577.3,