rs199476352

Orientation

minus

Stabilized

minus

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

Make rs199476352(C;T)

Make rs199476352(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50627375

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs199476352
dbSNP (classic)	rs199476352
ClinGen	rs199476352
ebi	rs199476352
HLI	rs199476352
Exac	rs199476352
Gnomad	rs199476352
Varsome	rs199476352
LitVar	rs199476352
Map	rs199476352
PheGenI	rs199476352
Biobank	rs199476352
1000 genomes	rs199476352
hgdp	rs199476352
ensembl	rs199476352
geneview	rs199476352
scholar	rs199476352
google	rs199476352
pharmgkb	rs199476352
gwascentral	rs199476352
openSNP	rs199476352
23andMe	rs199476352
SNPshot	rs199476352
SNPdbe	rs199476352
MSV3d	rs199476352
GWAS Ctlg	rs199476352

Max Magnitude

0

ClinVar
Risk	rs199476352(T;T)
Alt	rs199476352(T;T)
Reference	Rs199476352(C;C)
Significance	Pathogenic
Disease	not provided Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	not provided Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065803G>A
CLNSRC	UniProtKB (variants)
CLNACC	RCV000058956.1, RCV000409776.1,