rs398123249

Orientation

minus

Stabilized

minus

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

Make rs398123249(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149503468

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs398123249
dbSNP (classic)	rs398123249
ClinGen	rs398123249
ebi	rs398123249
HLI	rs398123249
Exac	rs398123249
Gnomad	rs398123249
Varsome	rs398123249
LitVar	rs398123249
Map	rs398123249
PheGenI	rs398123249
Biobank	rs398123249
1000 genomes	rs398123249
hgdp	rs398123249
ensembl	rs398123249
geneview	rs398123249
scholar	rs398123249
google	rs398123249
pharmgkb	rs398123249
gwascentral	rs398123249
openSNP	rs398123249
23andMe	rs398123249
SNPshot	rs398123249
SNPdbe	rs398123249
MSV3d	rs398123249
GWAS Ctlg	rs398123249

Max Magnitude

3

ClinVar
Risk	rs398123249(T;T)
Alt	rs398123249(T;T)
Reference	Rs398123249(C;C)
Significance	Pathogenic
Disease	not provided Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	not provided Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148584998G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078364.3, RCV000177014.1,