rs74315468

Orientation

minus

Stabilized

minus

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

Make rs74315468(C;T)

Make rs74315468(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626841

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315468
dbSNP (classic)	rs74315468
ClinGen	rs74315468
ebi	rs74315468
HLI	rs74315468
Exac	rs74315468
Gnomad	rs74315468
Varsome	rs74315468
LitVar	rs74315468
Map	rs74315468
PheGenI	rs74315468
Biobank	rs74315468
1000 genomes	rs74315468
hgdp	rs74315468
ensembl	rs74315468
geneview	rs74315468
scholar	rs74315468
google	rs74315468
pharmgkb	rs74315468
gwascentral	rs74315468
openSNP	rs74315468
23andMe	rs74315468
SNPshot	rs74315468
SNPdbe	rs74315468
MSV3d	rs74315468
GWAS Ctlg	rs74315468

Max Magnitude

0

OMIM	607574
Desc
Variant	0023
Related	also

ClinVar
Risk	rs74315468(T;T)
Alt	rs74315468(T;T)
Reference	Rs74315468(C;C)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy not specified
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy not specified
Reversed	1
HGVS	NC_000022.10:g.51065269G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003217.3, RCV000343115.1,