rs74315478

Orientation

minus

Stabilized

minus

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

Make rs74315478(C;T)

Make rs74315478(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50625653

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315478
dbSNP (classic)	rs74315478
ClinGen	rs74315478
ebi	rs74315478
HLI	rs74315478
Exac	rs74315478
Gnomad	rs74315478
Varsome	rs74315478
LitVar	rs74315478
Map	rs74315478
PheGenI	rs74315478
Biobank	rs74315478
1000 genomes	rs74315478
hgdp	rs74315478
ensembl	rs74315478
geneview	rs74315478
scholar	rs74315478
google	rs74315478
pharmgkb	rs74315478
gwascentral	rs74315478
openSNP	rs74315478
23andMe	rs74315478
SNPshot	rs74315478
SNPdbe	rs74315478
MSV3d	rs74315478
GWAS Ctlg	rs74315478

Max Magnitude

0

OMIM	607574
Desc
Variant	0035
Related	also

ClinVar
Risk	rs74315478(A;A) rs74315478(T;T)
Alt	rs74315478(A;A) rs74315478(T;T)
Reference	Rs74315478(C;C)
Significance	Pathogenic
Disease	Arylsulfatase a pseudodeficiency
Variation	info
Gene	ARSA
CLNDBN	Arylsulfatase a pseudodeficiency, severe
Reversed	1
HGVS	NC_000022.10:g.51064081G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003229.3,