rs121965029

Orientation

plus

Stabilized

plus

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

Make rs121965029(A;A)

Reference

GRCh38 38.1/141

Chromosome

4

Position

987916

Gene	IDUA, SLC26A1

is a	snp
is	mentioned by
dbSNP	rs121965029
dbSNP (classic)	rs121965029
ClinGen	rs121965029
ebi	rs121965029
HLI	rs121965029
Exac	rs121965029
Gnomad	rs121965029
Varsome	rs121965029
LitVar	rs121965029
Map	rs121965029
PheGenI	rs121965029
Biobank	rs121965029
1000 genomes	rs121965029
hgdp	rs121965029
ensembl	rs121965029
geneview	rs121965029
scholar	rs121965029
google	rs121965029
pharmgkb	rs121965029
gwascentral	rs121965029
openSNP	rs121965029
23andMe	rs121965029
SNPshot	rs121965029
SNPdbe	rs121965029
MSV3d	rs121965029
GWAS Ctlg	rs121965029

Max Magnitude

3

OMIM	252800
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121965029(A;A)
Alt	rs121965029(A;A)
Reference	Rs121965029(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Hurler syndrome Mucopolysaccharidosis type I
Variation	info
Gene	SLC26A1 IDUA
CLNDBN	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.981704G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012697.16, RCV000169784.3, RCV000208598.1,