rs173356864

Orientation

plus

Stabilized

plus

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

Make rs173356864(C;C)

Make rs173356864(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1003628

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs173356864
dbSNP (classic)	rs173356864
ClinGen	rs173356864
ebi	rs173356864
HLI	rs173356864
Exac	rs173356864
Gnomad	rs173356864
Varsome	rs173356864
LitVar	rs173356864
Map	rs173356864
PheGenI	rs173356864
Biobank	rs173356864
1000 genomes	rs173356864
hgdp	rs173356864
ensembl	rs173356864
geneview	rs173356864
scholar	rs173356864
google	rs173356864
pharmgkb	rs173356864
gwascentral	rs173356864
openSNP	rs173356864
23andMe	rs173356864
SNPshot	rs173356864
SNPdbe	rs173356864
MSV3d	rs173356864
GWAS Ctlg	rs173356864

Max Magnitude

0

ClinVar
Risk	rs173356864(C;C)
Alt	rs173356864(C;C)
Reference	Rs173356864(G;G)
Significance	Pathogenic
Disease	Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.997416G>C
CLNSRC
CLNACC

[PMID 21831683] A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.