rs74315465

Orientation

minus

Stabilized

minus

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

Make rs74315465(C;G)

Make rs74315465(G;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50627012

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315465
dbSNP (classic)	rs74315465
ClinGen	rs74315465
ebi	rs74315465
HLI	rs74315465
Exac	rs74315465
Gnomad	rs74315465
Varsome	rs74315465
LitVar	rs74315465
Map	rs74315465
PheGenI	rs74315465
Biobank	rs74315465
1000 genomes	rs74315465
hgdp	rs74315465
ensembl	rs74315465
geneview	rs74315465
scholar	rs74315465
google	rs74315465
pharmgkb	rs74315465
gwascentral	rs74315465
openSNP	rs74315465
23andMe	rs74315465
SNPshot	rs74315465
SNPdbe	rs74315465
MSV3d	rs74315465
GWAS Ctlg	rs74315465

Max Magnitude

0

OMIM	607574
Desc
Variant	0020
Related	also

ClinVar
Risk	rs74315465(G;G)
Alt	rs74315465(G;G)
Reference	Rs74315465(C;C)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065440G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003214.3,