rs764196171

Orientation

plus

Stabilized

plus

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

Make rs764196171(C;G)

Make rs764196171(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

1002325

Gene

IDUA

is a	snp
is	mentioned by
dbSNP	rs764196171
dbSNP (classic)	rs764196171
ClinGen	rs764196171
ebi	rs764196171
HLI	rs764196171
Exac	rs764196171
Gnomad	rs764196171
Varsome	rs764196171
LitVar	rs764196171
Map	rs764196171
PheGenI	rs764196171
Biobank	rs764196171
1000 genomes	rs764196171
hgdp	rs764196171
ensembl	rs764196171
geneview	rs764196171
scholar	rs764196171
google	rs764196171
pharmgkb	rs764196171
gwascentral	rs764196171
openSNP	rs764196171
23andMe	rs764196171
SNPshot	rs764196171
SNPdbe	rs764196171
MSV3d	rs764196171
GWAS Ctlg	rs764196171

Max Magnitude

3

ClinVar
Risk	rs764196171(A;A) rs764196171(G;G)
Alt	rs764196171(A;A) rs764196171(G;G)
Reference	Rs764196171(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type I
Variation	info
Gene	IDUA
CLNDBN	Mucopolysaccharidosis type I
Reversed	0
HGVS	NC_000004.11:g.996113C>A
CLNSRC
CLNACC	RCV000208592.1,