rs786200915

Orientation

plus

Stabilized

plus

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

Make rs786200915(TGCTC;TGCTC)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

1001706

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs786200915
dbSNP (classic)	rs786200915
ClinGen	rs786200915
ebi	rs786200915
HLI	rs786200915
Exac	rs786200915
Gnomad	rs786200915
Varsome	rs786200915
LitVar	rs786200915
Map	rs786200915
PheGenI	rs786200915
Biobank	rs786200915
1000 genomes	rs786200915
hgdp	rs786200915
ensembl	rs786200915
geneview	rs786200915
scholar	rs786200915
google	rs786200915
pharmgkb	rs786200915
gwascentral	rs786200915
openSNP	rs786200915
23andMe	rs786200915
SNPshot	rs786200915
SNPdbe	rs786200915
MSV3d	rs786200915
GWAS Ctlg	rs786200915

Max Magnitude

3

ClinVar
Risk	rs786200915(CTGCT;CTGCT)
Alt	rs786200915(CTGCT;CTGCT)
Reference	Rs786200915(-;-)
Significance	Pathogenic
Disease	Hurler syndrome Mucopolysaccharidosis type I
Variation	info
Gene	IDUA
CLNDBN	Hurler syndrome Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.995490_995494dupTGCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012696.25, RCV000208610.1,