rs121965024

Orientation

plus

Stabilized

plus

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

Make rs121965024(C;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1002392

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs121965024
dbSNP (classic)	rs121965024
ClinGen	rs121965024
ebi	rs121965024
HLI	rs121965024
Exac	rs121965024
Gnomad	rs121965024
Varsome	rs121965024
LitVar	rs121965024
Map	rs121965024
PheGenI	rs121965024
Biobank	rs121965024
1000 genomes	rs121965024
hgdp	rs121965024
ensembl	rs121965024
geneview	rs121965024
scholar	rs121965024
google	rs121965024
pharmgkb	rs121965024
gwascentral	rs121965024
openSNP	rs121965024
23andMe	rs121965024
SNPshot	rs121965024
SNPdbe	rs121965024
MSV3d	rs121965024
GWAS Ctlg	rs121965024

Max Magnitude

3

OMIM	252800
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121965024(C;C)
Alt	rs121965024(C;C)
Reference	Rs121965024(A;A)
Significance	Pathogenic
Disease	Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.996180A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012691.16,