rs74315463

Orientation

minus

Stabilized

minus

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

Make rs74315463(A;A)

Make rs74315463(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50627051

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315463
dbSNP (classic)	rs74315463
ClinGen	rs74315463
ebi	rs74315463
HLI	rs74315463
Exac	rs74315463
Gnomad	rs74315463
Varsome	rs74315463
LitVar	rs74315463
Map	rs74315463
PheGenI	rs74315463
Biobank	rs74315463
1000 genomes	rs74315463
hgdp	rs74315463
ensembl	rs74315463
geneview	rs74315463
scholar	rs74315463
google	rs74315463
pharmgkb	rs74315463
gwascentral	rs74315463
openSNP	rs74315463
23andMe	rs74315463
SNPshot	rs74315463
SNPdbe	rs74315463
MSV3d	rs74315463
GWAS Ctlg	rs74315463

Max Magnitude

0

OMIM	607574
Desc
Variant	0018
Related	also

ClinVar
Risk	rs74315463(A;A)
Alt	rs74315463(A;A)
Reference	Rs74315463(G;G)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065479C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003212.3,