rs201101343

Orientation

plus

Stabilized

plus

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

Make rs201101343(C;C)

Make rs201101343(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

78780549

Gene

ARSB

is a	snp
is	mentioned by
dbSNP	rs201101343
dbSNP (classic)	rs201101343
ClinGen	rs201101343
ebi	rs201101343
HLI	rs201101343
Exac	rs201101343
Gnomad	rs201101343
Varsome	rs201101343
LitVar	rs201101343
Map	rs201101343
PheGenI	rs201101343
Biobank	rs201101343
1000 genomes	rs201101343
hgdp	rs201101343
ensembl	rs201101343
geneview	rs201101343
scholar	rs201101343
google	rs201101343
pharmgkb	rs201101343
gwascentral	rs201101343
openSNP	rs201101343
23andMe	rs201101343
SNPshot	rs201101343
SNPdbe	rs201101343
MSV3d	rs201101343
GWAS Ctlg	rs201101343

Max Magnitude

0

ClinVar
Risk	rs201101343(C;C)
Alt	rs201101343(C;C)
Reference	Rs201101343(T;T)
Significance	Probable-Pathogenic
Disease	Mucopolysaccharidosis type VI
Variation	info
Gene	ARSB
CLNDBN	Mucopolysaccharidosis type VI
Reversed	0
HGVS	NC_000005.9:g.78076372T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169649.1,