rs118203941

Orientation

minus

Stabilized

minus

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

Make rs118203941(A;A)

Make rs118203941(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

78781974

Gene

ARSB

is a	snp
is	mentioned by
dbSNP	rs118203941
dbSNP (classic)	rs118203941
ClinGen	rs118203941
ebi	rs118203941
HLI	rs118203941
Exac	rs118203941
Gnomad	rs118203941
Varsome	rs118203941
LitVar	rs118203941
Map	rs118203941
PheGenI	rs118203941
Biobank	rs118203941
1000 genomes	rs118203941
hgdp	rs118203941
ensembl	rs118203941
geneview	rs118203941
scholar	rs118203941
google	rs118203941
pharmgkb	rs118203941
gwascentral	rs118203941
openSNP	rs118203941
23andMe	rs118203941
SNPshot	rs118203941
SNPdbe	rs118203941
MSV3d	rs118203941
GWAS Ctlg	rs118203941

Max Magnitude

0

OMIM	611542
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118203941(A;A)
Alt	rs118203941(A;A)
Reference	Rs118203941(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Mucopolysaccharidosis type VI
Variation	info
Gene	ARSB
CLNDBN	Mucopolysaccharidosis, type vi, severe Mucopolysaccharidosis type VI
Reversed	1
HGVS	NC_000005.9:g.78077797C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000928.4, RCV000179701.1,