rs397518434

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;C)	3	Carrier of a Gaucher disease mutation
(C;C)	0	common in clinvar

Make rs397518434(-;-)

Reference

GRCh37.p10 37.5/138

Chromosome

1

Position

155238573

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs397518434
dbSNP (classic)	rs397518434
ClinGen	rs397518434
ebi	rs397518434
HLI	rs397518434
Exac	rs397518434
Gnomad	rs397518434
Varsome	rs397518434
LitVar	rs397518434
Map	rs397518434
PheGenI	rs397518434
Biobank	rs397518434
1000 genomes	rs397518434
hgdp	rs397518434
ensembl	rs397518434
geneview	rs397518434
scholar	rs397518434
google	rs397518434
pharmgkb	rs397518434
gwascentral	rs397518434
openSNP	rs397518434
23andMe	rs397518434
SNPshot	rs397518434
SNPdbe	rs397518434
MSV3d	rs397518434
GWAS Ctlg	rs397518434

Max Magnitude

3

ClinVar
Risk	rs397518434(-;-)
Alt	rs397518434(-;-)
Reference	Rs397518434(C;C)
Significance	Pathogenic
Disease	Gaucher disease
Variation	info
Gene	GBA
CLNDBN	Gaucher disease, perinatal lethal
Reversed	1
HGVS	NC_000001.10:g.155208364delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004566.6,