rs1057517346

Orientation

minus

Stabilized

minus

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

Make rs1057517346(-;C)

Make rs1057517346(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50627023

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs1057517346
dbSNP (classic)	rs1057517346
ClinGen	rs1057517346
ebi	rs1057517346
HLI	rs1057517346
Exac	rs1057517346
Gnomad	rs1057517346
Varsome	rs1057517346
LitVar	rs1057517346
Map	rs1057517346
PheGenI	rs1057517346
Biobank	rs1057517346
1000 genomes	rs1057517346
hgdp	rs1057517346
ensembl	rs1057517346
geneview	rs1057517346
scholar	rs1057517346
google	rs1057517346
pharmgkb	rs1057517346
gwascentral	rs1057517346
openSNP	rs1057517346
23andMe	rs1057517346
SNPshot	rs1057517346
SNPdbe	rs1057517346
MSV3d	rs1057517346
GWAS Ctlg	rs1057517346

Max Magnitude

0

ClinVar
Risk	rs1057517346(C;C)
Alt	rs1057517346(C;C)
Reference	Rs1057517346(-;-)
Significance	Probable-Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065452dupG
CLNSRC
CLNACC	RCV000412016.1,