rs878853317

Orientation

minus

Stabilized

minus

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

Make rs878853317(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

155235241

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs878853317
dbSNP (classic)	rs878853317
ClinGen	rs878853317
ebi	rs878853317
HLI	rs878853317
Exac	rs878853317
Gnomad	rs878853317
Varsome	rs878853317
LitVar	rs878853317
Map	rs878853317
PheGenI	rs878853317
Biobank	rs878853317
1000 genomes	rs878853317
hgdp	rs878853317
ensembl	rs878853317
geneview	rs878853317
scholar	rs878853317
google	rs878853317
pharmgkb	rs878853317
gwascentral	rs878853317
openSNP	rs878853317
23andMe	rs878853317
SNPshot	rs878853317
SNPdbe	rs878853317
MSV3d	rs878853317
GWAS Ctlg	rs878853317

Max Magnitude

3

ClinVar
Risk	rs878853317(A;A)
Alt	rs878853317(A;A)
Reference	Rs878853317(G;G)
Significance	Probable-Pathogenic
Disease	Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155205032C>T
CLNSRC
CLNACC	RCV000225643.1,