rs387906315

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	3	Carrier of a Gaucher disease mutation
(G;G)	8	Gaucher disease

Reference

GRCh37.p10 37.5/138

Chromosome

1

Position

155240660

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs387906315
dbSNP (classic)	rs387906315
ClinGen	rs387906315
ebi	rs387906315
HLI	rs387906315
Exac	rs387906315
Gnomad	rs387906315
Varsome	rs387906315
LitVar	rs387906315
Map	rs387906315
PheGenI	rs387906315
Biobank	rs387906315
1000 genomes	rs387906315
hgdp	rs387906315
ensembl	rs387906315
geneview	rs387906315
scholar	rs387906315
google	rs387906315
pharmgkb	rs387906315
gwascentral	rs387906315
openSNP	rs387906315
23andMe	rs387906315
SNPshot	rs387906315
SNPdbe	rs387906315
MSV3d	rs387906315
GWAS Ctlg	rs387906315

Max Magnitude

8

rs387906315, also known as c.84dupG, p.Leu29Alafs*18 or 84GG, is a causal mutation for Gaucher's disease.

23andMe chooses to use their own name, i4000417, for this SNP.

ClinVar
Risk	Rs387906315(G;G)
Alt	Rs387906315(G;G)
Reference	Rs387906315(-;-)
Significance	Pathogenic
Disease	Gaucher's disease not provided
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1 not provided
Reversed	1
HGVS	NC_000001.10:g.155210452dupC
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000004543.5, RCV000079356.3,