rs74315459

Orientation

minus

Stabilized

minus

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

Make rs74315459(A;A)

Make rs74315459(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626202

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315459
dbSNP (classic)	rs74315459
ClinGen	rs74315459
ebi	rs74315459
HLI	rs74315459
Exac	rs74315459
Gnomad	rs74315459
Varsome	rs74315459
LitVar	rs74315459
Map	rs74315459
PheGenI	rs74315459
Biobank	rs74315459
1000 genomes	rs74315459
hgdp	rs74315459
ensembl	rs74315459
geneview	rs74315459
scholar	rs74315459
google	rs74315459
pharmgkb	rs74315459
gwascentral	rs74315459
openSNP	rs74315459
23andMe	rs74315459
SNPshot	rs74315459
SNPdbe	rs74315459
MSV3d	rs74315459
GWAS Ctlg	rs74315459

Max Magnitude

0

OMIM	607574
Desc
Variant	0011
Related	also

ClinVar
Risk	rs74315459(A;A)
Alt	rs74315459(A;A)
Reference	Rs74315459(G;G)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, late infantile
Reversed	1
HGVS	NC_000022.10:g.51064630C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003206.2,