rs121965031

Orientation

plus

Stabilized

plus

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

Make rs121965031(C;G)

Make rs121965031(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1004286

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs121965031
dbSNP (classic)	rs121965031
ClinGen	rs121965031
ebi	rs121965031
HLI	rs121965031
Exac	rs121965031
Gnomad	rs121965031
Varsome	rs121965031
LitVar	rs121965031
Map	rs121965031
PheGenI	rs121965031
Biobank	rs121965031
1000 genomes	rs121965031
hgdp	rs121965031
ensembl	rs121965031
geneview	rs121965031
scholar	rs121965031
google	rs121965031
pharmgkb	rs121965031
gwascentral	rs121965031
openSNP	rs121965031
23andMe	rs121965031
SNPshot	rs121965031
SNPdbe	rs121965031
MSV3d	rs121965031
GWAS Ctlg	rs121965031

Max Magnitude

3

OMIM	252800
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121965031(A;A) rs121965031(G;G) rs121965031(T;T)
Alt	rs121965031(A;A) rs121965031(G;G) rs121965031(T;T)
Reference	Rs121965031(C;C)
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.998074C>G; NC_000004.11:g.998074C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012699.26, RCV000337972.1,