rs74315471

Orientation

minus

Stabilized

minus

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

Make rs74315471(A;A)

Make rs74315471(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626706

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315471
dbSNP (classic)	rs74315471
ClinGen	rs74315471
ebi	rs74315471
HLI	rs74315471
Exac	rs74315471
Gnomad	rs74315471
Varsome	rs74315471
LitVar	rs74315471
Map	rs74315471
PheGenI	rs74315471
Biobank	rs74315471
1000 genomes	rs74315471
hgdp	rs74315471
ensembl	rs74315471
geneview	rs74315471
scholar	rs74315471
google	rs74315471
pharmgkb	rs74315471
gwascentral	rs74315471
openSNP	rs74315471
23andMe	rs74315471
SNPshot	rs74315471
SNPdbe	rs74315471
MSV3d	rs74315471
GWAS Ctlg	rs74315471

Max Magnitude

0

OMIM	607574
Desc
Variant	0026
Related	also

ClinVar
Risk	rs74315471(A;A)
Alt	rs74315471(A;A)
Reference	Rs74315471(G;G)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065134C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003220.3, RCV000020321.2,

[PMID 8101083] Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.