rs398123414

Orientation

minus

Stabilized

minus

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

Make rs398123414(-;-)

Make rs398123414(-;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50627585

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs398123414
dbSNP (classic)	rs398123414
ClinGen	rs398123414
ebi	rs398123414
HLI	rs398123414
Exac	rs398123414
Gnomad	rs398123414
Varsome	rs398123414
LitVar	rs398123414
Map	rs398123414
PheGenI	rs398123414
Biobank	rs398123414
1000 genomes	rs398123414
hgdp	rs398123414
ensembl	rs398123414
geneview	rs398123414
scholar	rs398123414
google	rs398123414
pharmgkb	rs398123414
gwascentral	rs398123414
openSNP	rs398123414
23andMe	rs398123414
SNPshot	rs398123414
SNPdbe	rs398123414
MSV3d	rs398123414
GWAS Ctlg	rs398123414

Max Magnitude

0

ClinVar
Risk	rs398123414(-;-)
Alt	rs398123414(-;-)
Reference	Rs398123414(C;C)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51066013delG
CLNSRC	ClinVar
CLNACC	RCV000078942.4,