rs74315481

Orientation

minus

Stabilized

minus

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

Make rs74315481(C;T)

Make rs74315481(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50625443

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315481
dbSNP (classic)	rs74315481
ClinGen	rs74315481
ebi	rs74315481
HLI	rs74315481
Exac	rs74315481
Gnomad	rs74315481
Varsome	rs74315481
LitVar	rs74315481
Map	rs74315481
PheGenI	rs74315481
Biobank	rs74315481
1000 genomes	rs74315481
hgdp	rs74315481
ensembl	rs74315481
geneview	rs74315481
scholar	rs74315481
google	rs74315481
pharmgkb	rs74315481
gwascentral	rs74315481
openSNP	rs74315481
23andMe	rs74315481
SNPshot	rs74315481
SNPdbe	rs74315481
MSV3d	rs74315481
GWAS Ctlg	rs74315481

Max Magnitude

0

OMIM	607574
Desc
Variant	0039
Related	also

ClinVar
Risk	rs74315481(T;T)
Alt	rs74315481(T;T)
Reference	Rs74315481(C;C)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, mild Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51063871G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003233.3, RCV000020313.1,

[PMID 7909527] Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.