rs74315462

Orientation

minus

Stabilized

minus

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

Make rs74315462(C;T)

Make rs74315462(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50627218

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315462
dbSNP (classic)	rs74315462
ClinGen	rs74315462
ebi	rs74315462
HLI	rs74315462
Exac	rs74315462
Gnomad	rs74315462
Varsome	rs74315462
LitVar	rs74315462
Map	rs74315462
PheGenI	rs74315462
Biobank	rs74315462
1000 genomes	rs74315462
hgdp	rs74315462
ensembl	rs74315462
geneview	rs74315462
scholar	rs74315462
google	rs74315462
pharmgkb	rs74315462
gwascentral	rs74315462
openSNP	rs74315462
23andMe	rs74315462
SNPshot	rs74315462
SNPdbe	rs74315462
MSV3d	rs74315462
GWAS Ctlg	rs74315462

Max Magnitude

0

OMIM	607574
Desc
Variant	0016
Related	also

ClinVar
Risk	rs74315462(T;T)
Alt	rs74315462(T;T)
Reference	Rs74315462(C;C)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, severe
Reversed	1
HGVS	NC_000022.10:g.51065646G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003210.3,