rs74315482

Orientation

minus

Stabilized

minus

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

Make rs74315482(C;T)

Make rs74315482(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50625213

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315482
dbSNP (classic)	rs74315482
ClinGen	rs74315482
ebi	rs74315482
HLI	rs74315482
Exac	rs74315482
Gnomad	rs74315482
Varsome	rs74315482
LitVar	rs74315482
Map	rs74315482
PheGenI	rs74315482
Biobank	rs74315482
1000 genomes	rs74315482
hgdp	rs74315482
ensembl	rs74315482
geneview	rs74315482
scholar	rs74315482
google	rs74315482
pharmgkb	rs74315482
gwascentral	rs74315482
openSNP	rs74315482
23andMe	rs74315482
SNPshot	rs74315482
SNPdbe	rs74315482
MSV3d	rs74315482
GWAS Ctlg	rs74315482

Max Magnitude

0

OMIM	607574
Desc
Variant	0040
Related	also

ClinVar
Risk	rs74315482(T;T)
Alt	rs74315482(T;T)
Reference	Rs74315482(C;C)
Significance	Pathogenic
Disease	Arylsulfatase A pseudodeficiency
Variation	info
Gene	ARSA
CLNDBN	Arylsulfatase A pseudodeficiency
Reversed	1
HGVS	NC_000022.10:g.51063641G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003234.3,