rs1057516638

Orientation

minus

Stabilized

minus

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

Make rs1057516638(-;-)

Make rs1057516638(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50626204

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs1057516638
dbSNP (classic)	rs1057516638
ClinGen	rs1057516638
ebi	rs1057516638
HLI	rs1057516638
Exac	rs1057516638
Gnomad	rs1057516638
Varsome	rs1057516638
LitVar	rs1057516638
Map	rs1057516638
PheGenI	rs1057516638
Biobank	rs1057516638
1000 genomes	rs1057516638
hgdp	rs1057516638
ensembl	rs1057516638
geneview	rs1057516638
scholar	rs1057516638
google	rs1057516638
pharmgkb	rs1057516638
gwascentral	rs1057516638
openSNP	rs1057516638
23andMe	rs1057516638
SNPshot	rs1057516638
SNPdbe	rs1057516638
MSV3d	rs1057516638
GWAS Ctlg	rs1057516638

Max Magnitude

0

ClinVar
Risk	rs1057516638(-;-)
Alt	rs1057516638(-;-)
Reference	Rs1057516638(G;G)
Significance	Probable-Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064632delC
CLNSRC
CLNACC	RCV000410340.1,