rs75822236

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs75822236(C;T)

Make rs75822236(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

155235002

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs75822236
dbSNP (classic)	rs75822236
ClinGen	rs75822236
ebi	rs75822236
HLI	rs75822236
Exac	rs75822236
Gnomad	rs75822236
Varsome	rs75822236
LitVar	rs75822236
Map	rs75822236
PheGenI	rs75822236
Biobank	rs75822236
1000 genomes	rs75822236
hgdp	rs75822236
ensembl	rs75822236
geneview	rs75822236
scholar	rs75822236
google	rs75822236
pharmgkb	rs75822236
gwascentral	rs75822236
openSNP	rs75822236
23andMe	rs75822236
SNPshot	rs75822236
SNPdbe	rs75822236
MSV3d	rs75822236
GWAS Ctlg	rs75822236

Merged from

Rs80356773

Max Magnitude

0

GBA c.1604G>A

ClinVar
Risk	rs75822236(T;T)
Alt	rs75822236(T;T)
Reference	Rs75822236(C;C)
Significance	Pathogenic
Disease	Gaucher's disease Gaucher disease not provided
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1 Gaucher disease not provided
Reversed	0
HGVS	NC_000001.10:g.155204793C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004553.6, RCV000020153.1, RCV000153309.2,

[PMID 30823506] Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.