rs398123247

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	3	Carrier of a MPS II mutation; note X-linkage
(G;G)	0	common in clinvar

Make rs398123247(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149505034

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs398123247
dbSNP (classic)	rs398123247
ClinGen	rs398123247
ebi	rs398123247
HLI	rs398123247
Exac	rs398123247
Gnomad	rs398123247
Varsome	rs398123247
LitVar	rs398123247
Map	rs398123247
PheGenI	rs398123247
Biobank	rs398123247
1000 genomes	rs398123247
hgdp	rs398123247
ensembl	rs398123247
geneview	rs398123247
scholar	rs398123247
google	rs398123247
pharmgkb	rs398123247
gwascentral	rs398123247
openSNP	rs398123247
23andMe	rs398123247
SNPshot	rs398123247
SNPdbe	rs398123247
MSV3d	rs398123247
GWAS Ctlg	rs398123247

Max Magnitude

3

ClinVar
Risk	rs398123247(C;C)
Alt	rs398123247(C;C)
Reference	Rs398123247(G;G)
Significance	Pathogenic
Disease	not provided Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	not provided Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148586564C>G
CLNSRC	ClinVar
CLNACC	RCV000078359.3, RCV000173081.1,