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

rs121912986

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912986(A;A)
Make rs121912986(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position87610957
GeneDSPP
is asnp
is mentioned by
dbSNPrs121912986
ebirs121912986
HLIrs121912986
Exacrs121912986
Varsomers121912986
Maprs121912986
PheGenIrs121912986
hapmaprs121912986
1000 genomesrs121912986
hgdprs121912986
ensemblrs121912986
gopubmedrs121912986
geneviewrs121912986
scholarrs121912986
googlers121912986
pharmgkbrs121912986
gwascentralrs121912986
openSNPrs121912986
23andMers121912986
23andMe allrs121912986
SNP Nexus

SNPshotrs121912986
SNPdbers121912986
MSV3drs121912986
GWAS Ctlgrs121912986
Merged fromRs28929492
Max Magnitude0
OMIM125485
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912986(A;A)
Alt rs121912986(A;A)
Reference rs121912986(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene DSPP
CLNDBN Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
Reversed 0
HGVS NC_000004.11:g.88532109C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018349.28,