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rs6831280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6831280(A;A)
Make rs6831280(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position1002377
GeneIDUA
is asnp
is mentioned by
dbSNPrs6831280
dbSNP (classic)rs6831280
ClinGenrs6831280
ebirs6831280
HLIrs6831280
Exacrs6831280
Gnomadrs6831280
Varsomers6831280
LitVarrs6831280
Maprs6831280
PheGenIrs6831280
Biobankrs6831280
1000 genomesrs6831280
hgdprs6831280
ensemblrs6831280
geneviewrs6831280
scholarrs6831280
googlers6831280
pharmgkbrs6831280
gwascentralrs6831280
openSNPrs6831280
23andMers6831280
SNPshotrs6831280
SNPdbers6831280
MSV3drs6831280
GWAS Ctlgrs6831280
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs6831280(A;A)
Alt rs6831280(A;A)
Reference Rs6831280(G;G)
Significance Non-pathogenic
Disease not specified Mucopolysaccharidosis type I
Variation info
Gene IDUA
CLNDBN not specified Mucopolysaccharidosis type I
Reversed 0
HGVS NC_000004.11:g.996165G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000078371.6, RCV000332794.1,