rs727503967

Orientation

plus

Stabilized

plus

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

Make rs727503967(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

1003434

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs727503967
dbSNP (classic)	rs727503967
ClinGen	rs727503967
ebi	rs727503967
HLI	rs727503967
Exac	rs727503967
Gnomad	rs727503967
Varsome	rs727503967
LitVar	rs727503967
Map	rs727503967
PheGenI	rs727503967
Biobank	rs727503967
1000 genomes	rs727503967
hgdp	rs727503967
ensembl	rs727503967
geneview	rs727503967
scholar	rs727503967
google	rs727503967
pharmgkb	rs727503967
gwascentral	rs727503967
openSNP	rs727503967
23andMe	rs727503967
SNPshot	rs727503967
SNPdbe	rs727503967
MSV3d	rs727503967
GWAS Ctlg	rs727503967

Max Magnitude

3

ClinVar
Risk	rs727503967(-;-)
Alt	rs727503967(-;-)
Reference	Rs727503967(G;G)
Significance	Pathogenic
Disease	not provided Hurler syndrome
Variation	info
Gene	IDUA
CLNDBN	not provided Hurler syndrome
Reversed	0
HGVS	NC_000004.11:g.997222delG
CLNSRC	HGMD
CLNACC	RCV000153377.2, RCV000173986.1,