rs1057516595

Orientation

minus

Stabilized

minus

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

Make rs1057516595(-;TA)

Make rs1057516595(TA;TA)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50627403

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs1057516595
dbSNP (classic)	rs1057516595
ClinGen	rs1057516595
ebi	rs1057516595
HLI	rs1057516595
Exac	rs1057516595
Gnomad	rs1057516595
Varsome	rs1057516595
LitVar	rs1057516595
Map	rs1057516595
PheGenI	rs1057516595
Biobank	rs1057516595
1000 genomes	rs1057516595
hgdp	rs1057516595
ensembl	rs1057516595
geneview	rs1057516595
scholar	rs1057516595
google	rs1057516595
pharmgkb	rs1057516595
gwascentral	rs1057516595
openSNP	rs1057516595
23andMe	rs1057516595
SNPshot	rs1057516595
SNPdbe	rs1057516595
MSV3d	rs1057516595
GWAS Ctlg	rs1057516595

Max Magnitude

0

ClinVar
Risk	rs1057516595(TA;TA)
Alt	rs1057516595(TA;TA)
Reference	Rs1057516595(-;-)
Significance	Probable-Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065831_51065832insTA
CLNSRC
CLNACC	RCV000411185.1,