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rs121912989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912989(C;T)
Make rs121912989(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position87610952
GeneDSPP
is asnp
is mentioned by
dbSNPrs121912989
dbSNP (classic)rs121912989
ClinGenrs121912989
ebirs121912989
HLIrs121912989
Exacrs121912989
Gnomadrs121912989
Varsomers121912989
LitVarrs121912989
Maprs121912989
PheGenIrs121912989
Biobankrs121912989
1000 genomesrs121912989
hgdprs121912989
ensemblrs121912989
geneviewrs121912989
scholarrs121912989
googlers121912989
pharmgkbrs121912989
gwascentralrs121912989
openSNPrs121912989
23andMers121912989
SNPshotrs121912989
SNPdbers121912989
MSV3drs121912989
GWAS Ctlgrs121912989
Max Magnitude0
OMIM125485
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912989(T;T)
Alt rs121912989(T;T)
Reference Rs121912989(C;C)
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.88532104C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018355.28,