rs121965032

Orientation

plus

Stabilized

plus

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

Make rs121965032(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1002387

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs121965032
dbSNP (classic)	rs121965032
ClinGen	rs121965032
ebi	rs121965032
HLI	rs121965032
Exac	rs121965032
Gnomad	rs121965032
Varsome	rs121965032
LitVar	rs121965032
Map	rs121965032
PheGenI	rs121965032
Biobank	rs121965032
1000 genomes	rs121965032
hgdp	rs121965032
ensembl	rs121965032
geneview	rs121965032
scholar	rs121965032
google	rs121965032
pharmgkb	rs121965032
gwascentral	rs121965032
openSNP	rs121965032
23andMe	rs121965032
SNPshot	rs121965032
SNPdbe	rs121965032
MSV3d	rs121965032
GWAS Ctlg	rs121965032

Max Magnitude

3

OMIM	252800
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121965032(T;T)
Alt	rs121965032(T;T)
Reference	Rs121965032(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDUA
CLNDBN	Mucopolysaccharidosis, MPS-I-H/S
Reversed	0
HGVS	NC_000004.11:g.996175C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012700.24,