rs121908303

Orientation

minus

Stabilized

minus

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

Make rs121908303(G;G)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155237577

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs121908303
dbSNP (classic)	rs121908303
ClinGen	rs121908303
ebi	rs121908303
HLI	rs121908303
Exac	rs121908303
Gnomad	rs121908303
Varsome	rs121908303
LitVar	rs121908303
Map	rs121908303
PheGenI	rs121908303
Biobank	rs121908303
1000 genomes	rs121908303
hgdp	rs121908303
ensembl	rs121908303
geneview	rs121908303
scholar	rs121908303
google	rs121908303
pharmgkb	rs121908303
gwascentral	rs121908303
openSNP	rs121908303
23andMe	rs121908303
SNPshot	rs121908303
SNPdbe	rs121908303
MSV3d	rs121908303
GWAS Ctlg	rs121908303

Max Magnitude

3

OMIM	606463
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121908303(G;G)
Alt	rs121908303(G;G)
Reference	Rs121908303(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.155207368A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004559.5,