rs199801029

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs199801029(C;C)

Make rs199801029(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

1002275

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs199801029
dbSNP (classic)	rs199801029
ClinGen	rs199801029
ebi	rs199801029
HLI	rs199801029
Exac	rs199801029
Gnomad	rs199801029
Varsome	rs199801029
LitVar	rs199801029
Map	rs199801029
PheGenI	rs199801029
Biobank	rs199801029
1000 genomes	rs199801029
hgdp	rs199801029
ensembl	rs199801029
geneview	rs199801029
scholar	rs199801029
google	rs199801029
pharmgkb	rs199801029
gwascentral	rs199801029
openSNP	rs199801029
23andMe	rs199801029
SNPshot	rs199801029
SNPdbe	rs199801029
MSV3d	rs199801029
GWAS Ctlg	rs199801029

Max Magnitude

0

ClinVar
Risk	rs199801029(C;C)
Alt	rs199801029(C;C)
Reference	Rs199801029(G;G)
Significance	Pathogenic
Disease	not provided Hurler syndrome Mucopolysaccharidosis type I
Variation	info
Gene	IDUA
CLNDBN	not provided Hurler syndrome Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.996063G>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000153376.2, RCV000180108.1, RCV000208605.1,