rs74315469

Orientation

minus

Stabilized

minus

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

Make rs74315469(A;A)

Make rs74315469(A;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626748

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315469
dbSNP (classic)	rs74315469
ClinGen	rs74315469
ebi	rs74315469
HLI	rs74315469
Exac	rs74315469
Gnomad	rs74315469
Varsome	rs74315469
LitVar	rs74315469
Map	rs74315469
PheGenI	rs74315469
Biobank	rs74315469
1000 genomes	rs74315469
hgdp	rs74315469
ensembl	rs74315469
geneview	rs74315469
scholar	rs74315469
google	rs74315469
pharmgkb	rs74315469
gwascentral	rs74315469
openSNP	rs74315469
23andMe	rs74315469
SNPshot	rs74315469
SNPdbe	rs74315469
MSV3d	rs74315469
GWAS Ctlg	rs74315469

Max Magnitude

0

OMIM	607574
Desc
Variant	0024
Related	also

ClinVar
Risk	rs74315469(A;A)
Alt	rs74315469(A;A)
Reference	Rs74315469(C;C)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065176G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003218.2,