Have questions? Visit https://www.reddit.com/r/SNPedia

rs121965031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965031(C;G)
Make rs121965031(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1004286
GeneIDUA
is asnp
is mentioned by
dbSNPrs121965031
ebirs121965031
HLIrs121965031
Exacrs121965031
Varsomers121965031
Maprs121965031
PheGenIrs121965031
hapmaprs121965031
1000 genomesrs121965031
hgdprs121965031
ensemblrs121965031
gopubmedrs121965031
geneviewrs121965031
scholarrs121965031
googlers121965031
pharmgkbrs121965031
gwascentralrs121965031
openSNPrs121965031
23andMers121965031
23andMe allrs121965031
SNP Nexus

SNPshotrs121965031
SNPdbers121965031
MSV3drs121965031
GWAS Ctlgrs121965031
Max Magnitude0
OMIM252800
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121965031(A,G,T;A,G,T)
Alt rs121965031(A,G,T;A,G,T)
Reference rs121965031(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis, MPS-I-H/S
Reversed 0
HGVS NC_000004.11:g.998074C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012699.25,