rs439898

Orientation

minus

Stabilized

minus

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

Make rs439898(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

155238630

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs439898
dbSNP (classic)	rs439898
ClinGen	rs439898
ebi	rs439898
HLI	rs439898
Exac	rs439898
Gnomad	rs439898
Varsome	rs439898
LitVar	rs439898
Map	rs439898
PheGenI	rs439898
Biobank	rs439898
1000 genomes	rs439898
hgdp	rs439898
ensembl	rs439898
geneview	rs439898
scholar	rs439898
google	rs439898
pharmgkb	rs439898
gwascentral	rs439898
openSNP	rs439898
23andMe	rs439898
SNPshot	rs439898
SNPdbe	rs439898
MSV3d	rs439898
GWAS Ctlg	rs439898

Merged from

Rs397515515

Max Magnitude

3

aka c.475C>T (p.Arg159Trp or R159W)

ClinVar
Risk	rs439898(T;T)
Alt	rs439898(T;T)
Reference	Rs439898(C;C)
Significance	Pathogenic
Disease	Gaucher disease not provided Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher disease not provided Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155208421G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000055774.1, RCV000079345.3, RCV000179355.1,