rs78396650

Orientation

minus

Stabilized

minus

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

Make rs78396650(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

155236426

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs78396650
dbSNP (classic)	rs78396650
ClinGen	rs78396650
ebi	rs78396650
HLI	rs78396650
Exac	rs78396650
Gnomad	rs78396650
Varsome	rs78396650
LitVar	rs78396650
Map	rs78396650
PheGenI	rs78396650
Biobank	rs78396650
1000 genomes	rs78396650
hgdp	rs78396650
ensembl	rs78396650
geneview	rs78396650
scholar	rs78396650
google	rs78396650
pharmgkb	rs78396650
gwascentral	rs78396650
openSNP	rs78396650
23andMe	rs78396650
SNPshot	rs78396650
SNPdbe	rs78396650
MSV3d	rs78396650
GWAS Ctlg	rs78396650

Max Magnitude

3

aka c.1043C>T (p.Ala348Val)

FTDNA & MyHeritage name: VG01S1161

OMIM	606463
Desc
Variant	0028
Related	also

ClinVar
Risk	rs78396650(G;G) rs78396650(T;T)
Alt	rs78396650(G;G) rs78396650(T;T)
Reference	Rs78396650(C;C)
Significance	Pathogenic
Disease	Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155206217G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004560.5,