rs398123412

Orientation

minus

Stabilized

minus

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

Make rs398123412(-;-)

Make rs398123412(-;CT)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50625663

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs398123412
dbSNP (classic)	rs398123412
ClinGen	rs398123412
ebi	rs398123412
HLI	rs398123412
Exac	rs398123412
Gnomad	rs398123412
Varsome	rs398123412
LitVar	rs398123412
Map	rs398123412
PheGenI	rs398123412
Biobank	rs398123412
1000 genomes	rs398123412
hgdp	rs398123412
ensembl	rs398123412
geneview	rs398123412
scholar	rs398123412
google	rs398123412
pharmgkb	rs398123412
gwascentral	rs398123412
openSNP	rs398123412
23andMe	rs398123412
SNPshot	rs398123412
SNPdbe	rs398123412
MSV3d	rs398123412
GWAS Ctlg	rs398123412

Max Magnitude

0

ClinVar
Risk	rs398123412(-;-)
Alt	rs398123412(-;-)
Reference	Rs398123412(CT;CT)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064091_51064092delAG
CLNSRC	ClinVar
CLNACC	RCV000078934.4,