rs199794428

Orientation

plus

Stabilized

plus

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

Make rs199794428(A;G)

Make rs199794428(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1004393

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs199794428
dbSNP (classic)	rs199794428
ClinGen	rs199794428
ebi	rs199794428
HLI	rs199794428
Exac	rs199794428
Gnomad	rs199794428
Varsome	rs199794428
LitVar	rs199794428
Map	rs199794428
PheGenI	rs199794428
Biobank	rs199794428
1000 genomes	rs199794428
hgdp	rs199794428
ensembl	rs199794428
geneview	rs199794428
scholar	rs199794428
google	rs199794428
pharmgkb	rs199794428
gwascentral	rs199794428
openSNP	rs199794428
23andMe	rs199794428
SNPshot	rs199794428
SNPdbe	rs199794428
MSV3d	rs199794428
GWAS Ctlg	rs199794428

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs199794428(G;G) rs199794428(T;T)
Alt	rs199794428(G;G) rs199794428(T;T)
Reference	Rs199794428(A;A)
Significance	Pathogenic
Disease	Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.998181A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012686.22,