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rs36094464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 0.5 most likely benign, though reported years ago to be pathogenic
Make rs36094464(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position87612388
GeneDSPP
is asnp
is mentioned by
dbSNPrs36094464
ebirs36094464
HLIrs36094464
Exacrs36094464
Varsomers36094464
Maprs36094464
PheGenIrs36094464
hapmaprs36094464
1000 genomesrs36094464
hgdprs36094464
ensemblrs36094464
gopubmedrs36094464
geneviewrs36094464
scholarrs36094464
googlers36094464
pharmgkbrs36094464
gwascentralrs36094464
openSNPrs36094464
23andMers36094464
23andMe allrs36094464
SNP Nexus

SNPshotrs36094464
SNPdbers36094464
MSV3drs36094464
GWAS Ctlgrs36094464
GMAF0.1088
Max Magnitude0.5
ClinVar
Risk rs36094464(T;T)
Alt rs36094464(T;T)
Reference rs36094464(A;A)
Significance Pathogenic
Disease Dentinogenesis imperfecta - Shield's type II
Variation info
Gene DSPP
CLNDBN Dentinogenesis imperfecta - Shield's type II
Reversed 0
HGVS NC_000004.11:g.88533540A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018354.27,



[PMID 18797159OA-icon.png] Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.


GET Evidence
DSPP-R68W
aa_change Arg68Trp
aa_change_short R68W
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.143045
summary Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.