rs398123258

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;C)	3	Carrier of a mucopolysaccharidosis type 1 mutation
(C;C)	0	common in clinvar

Make rs398123258(-;-)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1004083

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs398123258
dbSNP (classic)	rs398123258
ClinGen	rs398123258
ebi	rs398123258
HLI	rs398123258
Exac	rs398123258
Gnomad	rs398123258
Varsome	rs398123258
LitVar	rs398123258
Map	rs398123258
PheGenI	rs398123258
Biobank	rs398123258
1000 genomes	rs398123258
hgdp	rs398123258
ensembl	rs398123258
geneview	rs398123258
scholar	rs398123258
google	rs398123258
pharmgkb	rs398123258
gwascentral	rs398123258
openSNP	rs398123258
23andMe	rs398123258
SNPshot	rs398123258
SNPdbe	rs398123258
MSV3d	rs398123258
GWAS Ctlg	rs398123258

Max Magnitude

3

ClinVar
Risk	rs398123258(-;-)
Alt	rs398123258(-;-)
Reference	Rs398123258(C;C)
Significance	Pathogenic
Disease	not provided Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	not provided Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.997871delC
CLNSRC	ClinVar
CLNACC	RCV000078385.3, RCV000174452.2,