rs1057516887

Orientation

minus

Stabilized

minus

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

Make rs1057516887(-;-)

Make rs1057516887(-;GGTC)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50626151

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs1057516887
dbSNP (classic)	rs1057516887
ClinGen	rs1057516887
ebi	rs1057516887
HLI	rs1057516887
Exac	rs1057516887
Gnomad	rs1057516887
Varsome	rs1057516887
LitVar	rs1057516887
Map	rs1057516887
PheGenI	rs1057516887
Biobank	rs1057516887
1000 genomes	rs1057516887
hgdp	rs1057516887
ensembl	rs1057516887
geneview	rs1057516887
scholar	rs1057516887
google	rs1057516887
pharmgkb	rs1057516887
gwascentral	rs1057516887
openSNP	rs1057516887
23andMe	rs1057516887
SNPshot	rs1057516887
SNPdbe	rs1057516887
MSV3d	rs1057516887
GWAS Ctlg	rs1057516887

Max Magnitude

0

ClinVar
Risk	rs1057516887(-;-)
Alt	rs1057516887(-;-)
Reference	Rs1057516887(GGTC;GGTC)
Significance	Probable-Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51064579_51064582delGACC
CLNSRC
CLNACC	RCV000411535.1,