rs777295041

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

1000880

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs777295041
dbSNP (classic)	rs777295041
ClinGen	rs777295041
ebi	rs777295041
HLI	rs777295041
Exac	rs777295041
Gnomad	rs777295041
Varsome	rs777295041
LitVar	rs777295041
Map	rs777295041
PheGenI	rs777295041
Biobank	rs777295041
1000 genomes	rs777295041
hgdp	rs777295041
ensembl	rs777295041
geneview	rs777295041
scholar	rs777295041
google	rs777295041
pharmgkb	rs777295041
gwascentral	rs777295041
openSNP	rs777295041
23andMe	rs777295041
SNPshot	rs777295041
SNPdbe	rs777295041
MSV3d	rs777295041
GWAS Ctlg	rs777295041

Max Magnitude

5

aka c.386-2A>G

reported in ClinVar as pathogenic for mucopolysaccharidosis type 1

ClinVar
Risk	Rs777295041(G;G)
Alt	Rs777295041(G;G)
Reference	Rs777295041(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type I
Variation	info
Gene	IDUA
CLNDBN	Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.994668A>G
CLNSRC
CLNACC	RCV000208607.1,