rs199476349

Orientation

minus

Stabilized

minus

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

Make rs199476349(A;A)

Make rs199476349(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626250

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs199476349
dbSNP (classic)	rs199476349
ClinGen	rs199476349
ebi	rs199476349
HLI	rs199476349
Exac	rs199476349
Gnomad	rs199476349
Varsome	rs199476349
LitVar	rs199476349
Map	rs199476349
PheGenI	rs199476349
Biobank	rs199476349
1000 genomes	rs199476349
hgdp	rs199476349
ensembl	rs199476349
geneview	rs199476349
scholar	rs199476349
google	rs199476349
pharmgkb	rs199476349
gwascentral	rs199476349
openSNP	rs199476349
23andMe	rs199476349
SNPshot	rs199476349
SNPdbe	rs199476349
MSV3d	rs199476349
GWAS Ctlg	rs199476349

Max Magnitude

0

ClinVar
Risk	rs199476349(A;A)
Alt	rs199476349(A;A)
Reference	Rs199476349(G;G)
Significance	Other
Disease	not provided Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	not provided Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064678C>T
CLNSRC	HGMD UniProtKB (variants)
CLNACC	RCV000058985.3, RCV000150060.4,