rs398123260

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CGCTCCTGGCCT;CGCTCCTGGCCT)	0	common in clinvar
(TCGCTCCTGGCC;TCGCTCCTGGCC)	0	common in clinvar

Make rs398123260(-;-)

Make rs398123260(-;TCGCTCCTGGCC)

Reference

GRCh38 38.1/141

Chromosome

4

Position

987130

Gene	IDUA, SLC26A1

is a	snp
is	mentioned by
dbSNP	rs398123260
dbSNP (classic)	rs398123260
ClinGen	rs398123260
ebi	rs398123260
HLI	rs398123260
Exac	rs398123260
Gnomad	rs398123260
Varsome	rs398123260
LitVar	rs398123260
Map	rs398123260
PheGenI	rs398123260
Biobank	rs398123260
1000 genomes	rs398123260
hgdp	rs398123260
ensembl	rs398123260
geneview	rs398123260
scholar	rs398123260
google	rs398123260
pharmgkb	rs398123260
gwascentral	rs398123260
openSNP	rs398123260
23andMe	rs398123260
SNPshot	rs398123260
SNPdbe	rs398123260
MSV3d	rs398123260
GWAS Ctlg	rs398123260

Max Magnitude

0

ClinVar
Risk	rs398123260(-;-)
Alt	rs398123260(-;-)
Reference	Rs398123260(CGCTCCTGGCCT;CGCTCCTGGCCT)
Significance	Pathogenic
Disease	not provided Hurler syndrome Mucopolysaccharidosis type I
Variation	info
Gene	SLC26A1 IDUA
CLNDBN	not provided Hurler syndrome Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.980918_980929delTCGCTCCTGGCC
CLNSRC	HGMD
CLNACC	RCV000078393.3, RCV000173083.2, RCV000208599.1,