rs398123419

Orientation

minus

Stabilized

minus

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

Make rs398123419(G;T)

Make rs398123419(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626052

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs398123419
dbSNP (classic)	rs398123419
ClinGen	rs398123419
ebi	rs398123419
HLI	rs398123419
Exac	rs398123419
Gnomad	rs398123419
Varsome	rs398123419
LitVar	rs398123419
Map	rs398123419
PheGenI	rs398123419
Biobank	rs398123419
1000 genomes	rs398123419
hgdp	rs398123419
ensembl	rs398123419
geneview	rs398123419
scholar	rs398123419
google	rs398123419
pharmgkb	rs398123419
gwascentral	rs398123419
openSNP	rs398123419
23andMe	rs398123419
SNPshot	rs398123419
SNPdbe	rs398123419
MSV3d	rs398123419
GWAS Ctlg	rs398123419

Max Magnitude

0

ClinVar
Risk	rs398123419(T;T)
Alt	rs398123419(T;T)
Reference	Rs398123419(G;G)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064480C>A
CLNSRC	HGMD
CLNACC	RCV000078953.4,