rs875989946

Orientation

plus

Stabilized

plus

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

Make rs875989946(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

1001497

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs875989946
dbSNP (classic)	rs875989946
ClinGen	rs875989946
ebi	rs875989946
HLI	rs875989946
Exac	rs875989946
Gnomad	rs875989946
Varsome	rs875989946
LitVar	rs875989946
Map	rs875989946
PheGenI	rs875989946
Biobank	rs875989946
1000 genomes	rs875989946
hgdp	rs875989946
ensembl	rs875989946
geneview	rs875989946
scholar	rs875989946
google	rs875989946
pharmgkb	rs875989946
gwascentral	rs875989946
openSNP	rs875989946
23andMe	rs875989946
SNPshot	rs875989946
SNPdbe	rs875989946
MSV3d	rs875989946
GWAS Ctlg	rs875989946

Max Magnitude

3

ClinVar
Risk	rs875989946(C;C)
Alt	rs875989946(C;C)
Reference	Rs875989946(T;T)
Significance	Probable-Pathogenic
Disease	Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.995285T>C
CLNSRC	Shahid Beheshti University of Medical Sciences
CLNACC	RCV000211578.1,