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rs104893992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893992(C;T)
Make rs104893992(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position45438039
GeneRUNX2
is asnp
is mentioned by
dbSNPrs104893992
ebirs104893992
HLIrs104893992
Exacrs104893992
Varsomers104893992
Maprs104893992
PheGenIrs104893992
hapmaprs104893992
1000 genomesrs104893992
hgdprs104893992
ensemblrs104893992
gopubmedrs104893992
geneviewrs104893992
scholarrs104893992
googlers104893992
pharmgkbrs104893992
gwascentralrs104893992
openSNPrs104893992
23andMers104893992
23andMe allrs104893992
SNP Nexus

SNPshotrs104893992
SNPdbers104893992
MSV3drs104893992
GWAS Ctlgrs104893992
Max Magnitude0
OMIM600211
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893992(T;T)
Alt rs104893992(T;T)
Reference rs104893992(C;C)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45405776C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009886.4,