rs74315473

Orientation

minus

Stabilized

minus

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

Make rs74315473(C;T)

Make rs74315473(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626265

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315473
dbSNP (classic)	rs74315473
ClinGen	rs74315473
ebi	rs74315473
HLI	rs74315473
Exac	rs74315473
Gnomad	rs74315473
Varsome	rs74315473
LitVar	rs74315473
Map	rs74315473
PheGenI	rs74315473
Biobank	rs74315473
1000 genomes	rs74315473
hgdp	rs74315473
ensembl	rs74315473
geneview	rs74315473
scholar	rs74315473
google	rs74315473
pharmgkb	rs74315473
gwascentral	rs74315473
openSNP	rs74315473
23andMe	rs74315473
SNPshot	rs74315473
SNPdbe	rs74315473
MSV3d	rs74315473
GWAS Ctlg	rs74315473

Max Magnitude

0

OMIM	607574
Desc
Variant	0029
Related	also

ClinVar
Risk	rs74315473(T;T)
Alt	rs74315473(T;T)
Reference	Rs74315473(C;C)
Significance	Other
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064693G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003223.3,