rs121965033

Orientation

plus

Stabilized

plus

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

Make rs121965033(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1002333

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs121965033
dbSNP (classic)	rs121965033
ClinGen	rs121965033
ebi	rs121965033
HLI	rs121965033
Exac	rs121965033
Gnomad	rs121965033
Varsome	rs121965033
LitVar	rs121965033
Map	rs121965033
PheGenI	rs121965033
Biobank	rs121965033
1000 genomes	rs121965033
hgdp	rs121965033
ensembl	rs121965033
geneview	rs121965033
scholar	rs121965033
google	rs121965033
pharmgkb	rs121965033
gwascentral	rs121965033
openSNP	rs121965033
23andMe	rs121965033
SNPshot	rs121965033
SNPdbe	rs121965033
MSV3d	rs121965033
GWAS Ctlg	rs121965033

Max Magnitude

3

OMIM	252800
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121965033(G;G)
Alt	rs121965033(G;G)
Reference	Rs121965033(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.996121T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012702.26, RCV000012703.16,