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

rs4302331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs4302331(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33014229
GeneGLB1
is asnp
is mentioned by
dbSNPrs4302331
ebirs4302331
HLIrs4302331
Exacrs4302331
Varsomers4302331
Maprs4302331
PheGenIrs4302331
hapmaprs4302331
1000 genomesrs4302331
hgdprs4302331
ensemblrs4302331
gopubmedrs4302331
geneviewrs4302331
scholarrs4302331
googlers4302331
pharmgkbrs4302331
gwascentralrs4302331
openSNPrs4302331
23andMers4302331
23andMe allrs4302331
SNP Nexus

SNPshotrs4302331
SNPdbers4302331
MSV3drs4302331
GWAS Ctlgrs4302331
GMAF0.05923
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene GLB1
allele G
frequency 1
sift TOLERATED
HuRef 1103656064303
Disease Association Defects in GLB1 are the cause of mucopolysaccharidosis IV B (MPS4B) (MIM:253010); also known as Morquio syndrome B. MPS4B is a rare autosomal recessive disorder characterized by severe bone deformities without CNS involvement.



GET Evidence
GLB1-C521R
aa_change Cys521Arg
aa_change_short C521R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.933771
summary



ClinVar
Risk rs4302331(G;G)
Alt rs4302331(G;G)
Reference rs4302331(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene TMPPE GLB1
CLNDBN not specified
Reversed 0
HGVS NC_000003.11:g.33055721A>G
CLNSRC HGMD
CLNACC RCV000153326.2,