rs1057516288

Orientation

minus

Stabilized

minus

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

Make rs1057516288(-;-)

Make rs1057516288(-;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50627568

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs1057516288
dbSNP (classic)	rs1057516288
ClinGen	rs1057516288
ebi	rs1057516288
HLI	rs1057516288
Exac	rs1057516288
Gnomad	rs1057516288
Varsome	rs1057516288
LitVar	rs1057516288
Map	rs1057516288
PheGenI	rs1057516288
Biobank	rs1057516288
1000 genomes	rs1057516288
hgdp	rs1057516288
ensembl	rs1057516288
geneview	rs1057516288
scholar	rs1057516288
google	rs1057516288
pharmgkb	rs1057516288
gwascentral	rs1057516288
openSNP	rs1057516288
23andMe	rs1057516288
SNPshot	rs1057516288
SNPdbe	rs1057516288
MSV3d	rs1057516288
GWAS Ctlg	rs1057516288

Max Magnitude

0

ClinVar
Risk	rs1057516288(-;-)
Alt	rs1057516288(-;-)
Reference	Rs1057516288(TG;TG)
Significance	Probable-Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065996_51065997delCA
CLNSRC
CLNACC	RCV000410209.1,