rs121908300

Orientation

minus

Stabilized

minus

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

Make rs121908300(C;C)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155238144

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908300
dbSNP (classic)	rs121908300
ClinGen	rs121908300
ebi	rs121908300
HLI	rs121908300
Exac	rs121908300
Gnomad	rs121908300
Varsome	rs121908300
LitVar	rs121908300
Map	rs121908300
PheGenI	rs121908300
Biobank	rs121908300
1000 genomes	rs121908300
hgdp	rs121908300
ensembl	rs121908300
geneview	rs121908300
scholar	rs121908300
google	rs121908300
pharmgkb	rs121908300
gwascentral	rs121908300
openSNP	rs121908300
23andMe	rs121908300
SNPshot	rs121908300
SNPdbe	rs121908300
MSV3d	rs121908300
GWAS Ctlg	rs121908300

Max Magnitude

3

OMIM	606463
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121908300(C;C)
Alt	rs121908300(C;C)
Reference	Rs121908300(T;T)
Significance	Pathogenic
Disease	Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155207935A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004551.5,