rs74315475

Orientation

minus

Stabilized

minus

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

Make rs74315475(A;T)

Make rs74315475(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626033

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315475
dbSNP (classic)	rs74315475
ClinGen	rs74315475
ebi	rs74315475
HLI	rs74315475
Exac	rs74315475
Gnomad	rs74315475
Varsome	rs74315475
LitVar	rs74315475
Map	rs74315475
PheGenI	rs74315475
Biobank	rs74315475
1000 genomes	rs74315475
hgdp	rs74315475
ensembl	rs74315475
geneview	rs74315475
scholar	rs74315475
google	rs74315475
pharmgkb	rs74315475
gwascentral	rs74315475
openSNP	rs74315475
23andMe	rs74315475
SNPshot	rs74315475
SNPdbe	rs74315475
MSV3d	rs74315475
GWAS Ctlg	rs74315475

Max Magnitude

0

OMIM	607574
Desc
Variant	0032
Related	also

ClinVar
Risk	rs74315475(T;T)
Alt	rs74315475(T;T)
Reference	Rs74315475(A;A)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy Metachromatic leukodystrophy not provided Leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy not provided Leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064461T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003226.3, RCV000169024.1, RCV000413321.1, RCV000414806.1,