rs1057516730

Orientation

minus

Stabilized

minus

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

Make rs1057516730(C;T)

Make rs1057516730(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50627210

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs1057516730
dbSNP (classic)	rs1057516730
ClinGen	rs1057516730
ebi	rs1057516730
HLI	rs1057516730
Exac	rs1057516730
Gnomad	rs1057516730
Varsome	rs1057516730
LitVar	rs1057516730
Map	rs1057516730
PheGenI	rs1057516730
Biobank	rs1057516730
1000 genomes	rs1057516730
hgdp	rs1057516730
ensembl	rs1057516730
geneview	rs1057516730
scholar	rs1057516730
google	rs1057516730
pharmgkb	rs1057516730
gwascentral	rs1057516730
openSNP	rs1057516730
23andMe	rs1057516730
SNPshot	rs1057516730
SNPdbe	rs1057516730
MSV3d	rs1057516730
GWAS Ctlg	rs1057516730

Max Magnitude

0

ClinVar
Risk	rs1057516730(T;T)
Alt	rs1057516730(T;T)
Reference	Rs1057516730(C;C)
Significance	Probable-Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065638G>A
CLNSRC
CLNACC	RCV000410152.1,