rs121965027

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	3	Likely miscall if from Ancestry or FamilyTreeDNA/FTDNA data; otherwise, Hurler syndrome mutation(s)
(T;T)	0	common in clinvar

Make rs121965027(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1003102

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs121965027
dbSNP (classic)	rs121965027
ClinGen	rs121965027
ebi	rs121965027
HLI	rs121965027
Exac	rs121965027
Gnomad	rs121965027
Varsome	rs121965027
LitVar	rs121965027
Map	rs121965027
PheGenI	rs121965027
Biobank	rs121965027
1000 genomes	rs121965027
hgdp	rs121965027
ensembl	rs121965027
geneview	rs121965027
scholar	rs121965027
google	rs121965027
pharmgkb	rs121965027
gwascentral	rs121965027
openSNP	rs121965027
23andMe	rs121965027
SNPshot	rs121965027
SNPdbe	rs121965027
MSV3d	rs121965027
GWAS Ctlg	rs121965027

Max Magnitude

3

OMIM	252800
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs121965027(C;C)
Alt	Rs121965027(C;C)
Reference	Rs121965027(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	Mucopolysaccharidosis, MPS-I-H/S not provided Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.996890T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012694.21, RCV000078381.3, RCV000173657.1,