rs121434215

Orientation

minus

Stabilized

minus

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

Make rs121434215(C;C)

Make rs121434215(C;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50627221

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs121434215
dbSNP (classic)	rs121434215
ClinGen	rs121434215
ebi	rs121434215
HLI	rs121434215
Exac	rs121434215
Gnomad	rs121434215
Varsome	rs121434215
LitVar	rs121434215
Map	rs121434215
PheGenI	rs121434215
Biobank	rs121434215
1000 genomes	rs121434215
hgdp	rs121434215
ensembl	rs121434215
geneview	rs121434215
scholar	rs121434215
google	rs121434215
pharmgkb	rs121434215
gwascentral	rs121434215
openSNP	rs121434215
23andMe	rs121434215
SNPshot	rs121434215
SNPdbe	rs121434215
MSV3d	rs121434215
GWAS Ctlg	rs121434215

Max Magnitude

0

OMIM	607574
Desc
Variant	0042
Related	also

ClinVar
Risk	rs121434215(C;C)
Alt	rs121434215(C;C)
Reference	Rs121434215(T;T)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, adult type
Reversed	1
HGVS	NC_000022.10:g.51065649A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003235.2,