rs121965023

Orientation

plus

Stabilized

plus

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

Make rs121965023(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1002117

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs121965023
dbSNP (classic)	rs121965023
ClinGen	rs121965023
ebi	rs121965023
HLI	rs121965023
Exac	rs121965023
Gnomad	rs121965023
Varsome	rs121965023
LitVar	rs121965023
Map	rs121965023
PheGenI	rs121965023
Biobank	rs121965023
1000 genomes	rs121965023
hgdp	rs121965023
ensembl	rs121965023
geneview	rs121965023
scholar	rs121965023
google	rs121965023
pharmgkb	rs121965023
gwascentral	rs121965023
openSNP	rs121965023
23andMe	rs121965023
SNPshot	rs121965023
SNPdbe	rs121965023
MSV3d	rs121965023
GWAS Ctlg	rs121965023

Max Magnitude

3

OMIM	252800
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121965023(T;T)
Alt	rs121965023(T;T)
Reference	Rs121965023(C;C)
Significance	Pathogenic
Disease	Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.995905C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012690.16,