rs11934801

Orientation

plus

Stabilized

plus

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

Make rs11934801(C;C)

Make rs11934801(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1002767

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs11934801
dbSNP (classic)	rs11934801
ClinGen	rs11934801
ebi	rs11934801
HLI	rs11934801
Exac	rs11934801
Gnomad	rs11934801
Varsome	rs11934801
LitVar	rs11934801
Map	rs11934801
PheGenI	rs11934801
Biobank	rs11934801
1000 genomes	rs11934801
hgdp	rs11934801
ensembl	rs11934801
geneview	rs11934801
scholar	rs11934801
google	rs11934801
pharmgkb	rs11934801
gwascentral	rs11934801
openSNP	rs11934801
23andMe	rs11934801
SNPshot	rs11934801
SNPdbe	rs11934801
MSV3d	rs11934801
GWAS Ctlg	rs11934801

GMAF

0.01653

Max Magnitude

0

OMIM	252800
Desc	HURLER SYNDROME
Variant	0005
Related	also

ClinVar
Risk	rs11934801(A;A) rs11934801(C;C)
Alt	rs11934801(A;A) rs11934801(C;C)
Reference	Rs11934801(G;G)
Significance	Other
Disease	Hurler syndrome not specified Mucopolysaccharidosis type I not provided
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome not specified Mucopolysaccharidosis type I not provided
Reversed	0
HGVS	NC_000004.11:g.996555G>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012686.22, RCV000078375.4, RCV000327434.1, RCV000418377.1,