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rs121912985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912985(C;T)
Make rs121912985(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position87612186
GeneDSPP
is asnp
is mentioned by
dbSNPrs121912985
dbSNP (classic)rs121912985
ClinGenrs121912985
ebirs121912985
HLIrs121912985
Exacrs121912985
Gnomadrs121912985
Varsomers121912985
LitVarrs121912985
Maprs121912985
PheGenIrs121912985
Biobankrs121912985
1000 genomesrs121912985
hgdprs121912985
ensemblrs121912985
geneviewrs121912985
scholarrs121912985
googlers121912985
pharmgkbrs121912985
gwascentralrs121912985
openSNPrs121912985
23andMers121912985
SNPshotrs121912985
SNPdbers121912985
MSV3drs121912985
GWAS Ctlgrs121912985
Max Magnitude0
OMIM125485
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912985(T;T)
Alt rs121912985(T;T)
Reference Rs121912985(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.88533338C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018347.27,