rs74315477

Orientation

minus

Stabilized

minus

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

Make rs74315477(A;A)

Make rs74315477(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50625674

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315477
dbSNP (classic)	rs74315477
ClinGen	rs74315477
ebi	rs74315477
HLI	rs74315477
Exac	rs74315477
Gnomad	rs74315477
Varsome	rs74315477
LitVar	rs74315477
Map	rs74315477
PheGenI	rs74315477
Biobank	rs74315477
1000 genomes	rs74315477
hgdp	rs74315477
ensembl	rs74315477
geneview	rs74315477
scholar	rs74315477
google	rs74315477
pharmgkb	rs74315477
gwascentral	rs74315477
openSNP	rs74315477
23andMe	rs74315477
SNPshot	rs74315477
SNPdbe	rs74315477
MSV3d	rs74315477
GWAS Ctlg	rs74315477

Max Magnitude

0

OMIM	607574
Desc
Variant	0034
Related	also

ClinVar
Risk	rs74315477(A;A) rs74315477(C;C)
Alt	rs74315477(A;A) rs74315477(C;C)
Reference	Rs74315477(G;G)
Significance	Pathogenic
Disease	not specified Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	not specified Metachromatic leukodystrophy, mild
Reversed	1
HGVS	NC_000022.10:g.51064102C>G; NC_000022.10:g.51064102C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000152792.3, RCV000003228.3,