rs398123012

Orientation

minus

Stabilized

minus

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

Make rs398123012(C;T)

Make rs398123012(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35738811

Gene

GBA2

is a	snp
is	mentioned by
dbSNP	rs398123012
dbSNP (classic)	rs398123012
ClinGen	rs398123012
ebi	rs398123012
HLI	rs398123012
Exac	rs398123012
Gnomad	rs398123012
Varsome	rs398123012
LitVar	rs398123012
Map	rs398123012
PheGenI	rs398123012
Biobank	rs398123012
1000 genomes	rs398123012
hgdp	rs398123012
ensembl	rs398123012
geneview	rs398123012
scholar	rs398123012
google	rs398123012
pharmgkb	rs398123012
gwascentral	rs398123012
openSNP	rs398123012
23andMe	rs398123012
SNPshot	rs398123012
SNPdbe	rs398123012
MSV3d	rs398123012
GWAS Ctlg	rs398123012

Max Magnitude

0

ClinVar
Risk	rs398123012(T;T)
Alt	rs398123012(T;T)
Reference	Rs398123012(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 46
Variation	info
Gene	GBA2
CLNDBN	Spastic paraplegia 46, autosomal recessive
Reversed	1
HGVS	NC_000009.11:g.35738808G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034369.3,