rs1057517044

Orientation

minus

Stabilized

minus

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

Make rs1057517044(A;G)

Make rs1057517044(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50627054

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs1057517044
dbSNP (classic)	rs1057517044
ClinGen	rs1057517044
ebi	rs1057517044
HLI	rs1057517044
Exac	rs1057517044
Gnomad	rs1057517044
Varsome	rs1057517044
LitVar	rs1057517044
Map	rs1057517044
PheGenI	rs1057517044
Biobank	rs1057517044
1000 genomes	rs1057517044
hgdp	rs1057517044
ensembl	rs1057517044
geneview	rs1057517044
scholar	rs1057517044
google	rs1057517044
pharmgkb	rs1057517044
gwascentral	rs1057517044
openSNP	rs1057517044
23andMe	rs1057517044
SNPshot	rs1057517044
SNPdbe	rs1057517044
MSV3d	rs1057517044
GWAS Ctlg	rs1057517044

Max Magnitude

0

ClinVar
Risk	rs1057517044(G;G)
Alt	rs1057517044(G;G)
Reference	Rs1057517044(A;A)
Significance	Probable-Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065482T>C
CLNSRC
CLNACC	RCV000409478.1,