rs74315483

Orientation

minus

Stabilized

minus

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

Make rs74315483(A;A)

Make rs74315483(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626682

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315483
dbSNP (classic)	rs74315483
ClinGen	rs74315483
ebi	rs74315483
HLI	rs74315483
Exac	rs74315483
Gnomad	rs74315483
Varsome	rs74315483
LitVar	rs74315483
Map	rs74315483
PheGenI	rs74315483
Biobank	rs74315483
1000 genomes	rs74315483
hgdp	rs74315483
ensembl	rs74315483
geneview	rs74315483
scholar	rs74315483
google	rs74315483
pharmgkb	rs74315483
gwascentral	rs74315483
openSNP	rs74315483
23andMe	rs74315483
SNPshot	rs74315483
SNPdbe	rs74315483
MSV3d	rs74315483
GWAS Ctlg	rs74315483

Max Magnitude

0

OMIM	607574
Desc
Variant	0044
Related	also

ClinVar
Risk	rs74315483(A;A)
Alt	rs74315483(A;A)
Reference	Rs74315483(G;G)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy Metachromatic leukodystrophy not provided
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, late infantile Metachromatic leukodystrophy not provided
Reversed	1
HGVS	NC_000022.10:g.51065110C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003237.3, RCV000169048.1, RCV000364541.1,