rs368060

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs368060(C;G)

Make rs368060(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

155235217

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs368060
dbSNP (classic)	rs368060
ClinGen	rs368060
ebi	rs368060
HLI	rs368060
Exac	rs368060
Gnomad	rs368060
Varsome	rs368060
LitVar	rs368060
Map	rs368060
PheGenI	rs368060
Biobank	rs368060
1000 genomes	rs368060
hgdp	rs368060
ensembl	rs368060
geneview	rs368060
scholar	rs368060
google	rs368060
pharmgkb	rs368060
gwascentral	rs368060
openSNP	rs368060
23andMe	rs368060
SNPshot	rs368060
SNPdbe	rs368060
MSV3d	rs368060
GWAS Ctlg	rs368060

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

OMIM	606463
Desc
Variant	0009
Related	also

ClinVar
Risk	rs368060(G;G)
Alt	rs368060(G;G)
Reference	Rs368060(C;C)
Significance	Pathogenic
Disease	Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease not specified
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease, perinatal lethal not specified
Reversed	0
HGVS	NC_000001.10:g.155205008C>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004533.5, RCV000004534.5, RCV000004535.5, RCV000004536.5, RCV000079341.4,