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rs777295041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 3 carrier of one mucopolysaccharidosis type 1 allele
(G;G) 5 Mucopolysaccharidosis type 1
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position1000880
GeneIDUA
is asnp
is mentioned by
dbSNPrs777295041
ebirs777295041
HLIrs777295041
Exacrs777295041
Varsomers777295041
Maprs777295041
PheGenIrs777295041
hapmaprs777295041
1000 genomesrs777295041
hgdprs777295041
ensemblrs777295041
gopubmedrs777295041
geneviewrs777295041
scholarrs777295041
googlers777295041
pharmgkbrs777295041
gwascentralrs777295041
openSNPrs777295041
23andMers777295041
23andMe allrs777295041
SNP Nexus

SNPshotrs777295041
SNPdbers777295041
MSV3drs777295041
GWAS Ctlgrs777295041
Max Magnitude5
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 1
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.994668A>G
CLNSRC
CLNACC RCV000208607.1,