rs118203938

Orientation

minus

Stabilized

minus

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

Make rs118203938(G;T)

Make rs118203938(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

78969095

Gene

ARSB

is a	snp
is	mentioned by
dbSNP	rs118203938
dbSNP (classic)	rs118203938
ClinGen	rs118203938
ebi	rs118203938
HLI	rs118203938
Exac	rs118203938
Gnomad	rs118203938
Varsome	rs118203938
LitVar	rs118203938
Map	rs118203938
PheGenI	rs118203938
Biobank	rs118203938
1000 genomes	rs118203938
hgdp	rs118203938
ensembl	rs118203938
geneview	rs118203938
scholar	rs118203938
google	rs118203938
pharmgkb	rs118203938
gwascentral	rs118203938
openSNP	rs118203938
23andMe	rs118203938
SNPshot	rs118203938
SNPdbe	rs118203938
MSV3d	rs118203938
GWAS Ctlg	rs118203938

Max Magnitude

0

OMIM	611542
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118203938(A;A) rs118203938(T;T)
Alt	rs118203938(A;A) rs118203938(T;T)
Reference	Rs118203938(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	ARSB
CLNDBN	Mucopolysaccharidosis, type vi, intermediate
Reversed	1
HGVS	NC_000005.9:g.78264918C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000925.4,