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rs121912987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912987(G;T)
Make rs121912987(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position87612105
GeneDSPP
is asnp
is mentioned by
dbSNPrs121912987
ebirs121912987
HLIrs121912987
Exacrs121912987
Varsomers121912987
Maprs121912987
PheGenIrs121912987
hapmaprs121912987
1000 genomesrs121912987
hgdprs121912987
ensemblrs121912987
gopubmedrs121912987
geneviewrs121912987
scholarrs121912987
googlers121912987
pharmgkbrs121912987
gwascentralrs121912987
openSNPrs121912987
23andMers121912987
23andMe allrs121912987
SNP Nexus

SNPshotrs121912987
SNPdbers121912987
MSV3drs121912987
GWAS Ctlgrs121912987
Max Magnitude0
OMIM125485
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912987(T;T)
Alt rs121912987(T;T)
Reference rs121912987(G;G)
Significance Pathogenic
Disease Deafness Dentinogenesis imperfecta - Shield's type II Dentinogenesis imperfecta - Shield's type III
Variation info
Gene DSPP
CLNDBN Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta - Shield's type II Dentinogenesis imperfecta - Shield's type III
Reversed 0
HGVS NC_000004.11:g.88533257G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018350.28, RCV000018351.28, RCV000018352.28,