rs398123418

Orientation

minus

Stabilized

minus

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

Make rs398123418(C;T)

Make rs398123418(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626057

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs398123418
dbSNP (classic)	rs398123418
ClinGen	rs398123418
ebi	rs398123418
HLI	rs398123418
Exac	rs398123418
Gnomad	rs398123418
Varsome	rs398123418
LitVar	rs398123418
Map	rs398123418
PheGenI	rs398123418
Biobank	rs398123418
1000 genomes	rs398123418
hgdp	rs398123418
ensembl	rs398123418
geneview	rs398123418
scholar	rs398123418
google	rs398123418
pharmgkb	rs398123418
gwascentral	rs398123418
openSNP	rs398123418
23andMe	rs398123418
SNPshot	rs398123418
SNPdbe	rs398123418
MSV3d	rs398123418
GWAS Ctlg	rs398123418

Max Magnitude

0

ClinVar
Risk	rs398123418(T;T)
Alt	rs398123418(T;T)
Reference	Rs398123418(C;C)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064485G>A
CLNSRC	HGMD
CLNACC	RCV000078952.4,