rs74315457

Orientation

minus

Stabilized

minus

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

Make rs74315457(G;G)

Make rs74315457(G;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626976

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315457
dbSNP (classic)	rs74315457
ClinGen	rs74315457
ebi	rs74315457
HLI	rs74315457
Exac	rs74315457
Gnomad	rs74315457
Varsome	rs74315457
LitVar	rs74315457
Map	rs74315457
PheGenI	rs74315457
Biobank	rs74315457
1000 genomes	rs74315457
hgdp	rs74315457
ensembl	rs74315457
geneview	rs74315457
scholar	rs74315457
google	rs74315457
pharmgkb	rs74315457
gwascentral	rs74315457
openSNP	rs74315457
23andMe	rs74315457
SNPshot	rs74315457
SNPdbe	rs74315457
MSV3d	rs74315457
GWAS Ctlg	rs74315457

Max Magnitude

0

OMIM	607574
Desc
Variant	0008
Related	also

ClinVar
Risk	rs74315457(G;G)
Alt	rs74315457(G;G)
Reference	Rs74315457(T;T)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065404A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003202.2, RCV000003203.2, RCV000020320.2,

[PMID 1684088] Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

[PMID 12081727] High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy.