rs398123250

Orientation

minus

Stabilized

minus

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

Make rs398123250(C;C)

Make rs398123250(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149498228

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs398123250
dbSNP (classic)	rs398123250
ClinGen	rs398123250
ebi	rs398123250
HLI	rs398123250
Exac	rs398123250
Gnomad	rs398123250
Varsome	rs398123250
LitVar	rs398123250
Map	rs398123250
PheGenI	rs398123250
Biobank	rs398123250
1000 genomes	rs398123250
hgdp	rs398123250
ensembl	rs398123250
geneview	rs398123250
scholar	rs398123250
google	rs398123250
pharmgkb	rs398123250
gwascentral	rs398123250
openSNP	rs398123250
23andMe	rs398123250
SNPshot	rs398123250
SNPdbe	rs398123250
MSV3d	rs398123250
GWAS Ctlg	rs398123250

Max Magnitude

0

ClinVar
Risk	rs398123250(C;C)
Alt	rs398123250(C;C)
Reference	Rs398123250(T;T)
Significance	Pathogenic
Disease	not provided Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	not provided Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148579759A>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078366.3, RCV000178730.1,