rs74315456

Orientation

minus

Stabilized

minus

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

Make rs74315456(C;T)

Make rs74315456(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50627338

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315456
dbSNP (classic)	rs74315456
ClinGen	rs74315456
ebi	rs74315456
HLI	rs74315456
Exac	rs74315456
Gnomad	rs74315456
Varsome	rs74315456
LitVar	rs74315456
Map	rs74315456
PheGenI	rs74315456
Biobank	rs74315456
1000 genomes	rs74315456
hgdp	rs74315456
ensembl	rs74315456
geneview	rs74315456
scholar	rs74315456
google	rs74315456
pharmgkb	rs74315456
gwascentral	rs74315456
openSNP	rs74315456
23andMe	rs74315456
SNPshot	rs74315456
SNPdbe	rs74315456
MSV3d	rs74315456
GWAS Ctlg	rs74315456

Max Magnitude

0

OMIM	607574
Desc
Variant	0006
Related	also

ClinVar
Risk	rs74315456(T;T)
Alt	rs74315456(T;T)
Reference	Rs74315456(C;C)
Significance	Other
Disease	Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, late infantile Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065766G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000003199.2, RCV000020317.5,

[PMID 1678251] Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.