rs387906504

Orientation

plus

Stabilized

plus

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

Make rs387906504(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1004391

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs387906504
dbSNP (classic)	rs387906504
ClinGen	rs387906504
ebi	rs387906504
HLI	rs387906504
Exac	rs387906504
Gnomad	rs387906504
Varsome	rs387906504
LitVar	rs387906504
Map	rs387906504
PheGenI	rs387906504
Biobank	rs387906504
1000 genomes	rs387906504
hgdp	rs387906504
ensembl	rs387906504
geneview	rs387906504
scholar	rs387906504
google	rs387906504
pharmgkb	rs387906504
gwascentral	rs387906504
openSNP	rs387906504
23andMe	rs387906504
SNPshot	rs387906504
SNPdbe	rs387906504
MSV3d	rs387906504
GWAS Ctlg	rs387906504

Max Magnitude

3

ClinVar
Risk	rs387906504(G;G)
Alt	rs387906504(G;G)
Reference	Rs387906504(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Mucopolysaccharidosis type I
Variation	info
Gene	IDUA
CLNDBN	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.998179T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012695.15, RCV000208602.1,