rs758452450

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	Mucopolysaccharidosis type 1
(A;G)	3	Carrier of a mucopolysaccharidosis type 1 mutation
(G;G)	0	common/normal

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

987873

Gene	IDUA, SLC26A1

is a	snp
is	mentioned by
dbSNP	rs758452450
dbSNP (classic)	rs758452450
ClinGen	rs758452450
ebi	rs758452450
HLI	rs758452450
Exac	rs758452450
Gnomad	rs758452450
Varsome	rs758452450
LitVar	rs758452450
Map	rs758452450
PheGenI	rs758452450
Biobank	rs758452450
1000 genomes	rs758452450
hgdp	rs758452450
ensembl	rs758452450
geneview	rs758452450
scholar	rs758452450
google	rs758452450
pharmgkb	rs758452450
gwascentral	rs758452450
openSNP	rs758452450
23andMe	rs758452450
SNPshot	rs758452450
SNPdbe	rs758452450
MSV3d	rs758452450
GWAS Ctlg	rs758452450

Max Magnitude

5

aka c.223G>A, p.Ala75Thr or A75T

reported in ClinVar as pathogenic for mucopolysaccharidosis type 1

ClinVar
Risk	Rs758452450(A;A)
Alt	Rs758452450(A;A)
Reference	Rs758452450(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type I
Variation	info
Gene	SLC26A1 IDUA
CLNDBN	Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.981661G>A
CLNSRC
CLNACC	RCV000208613.1,