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rs104893989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893989(G;G)
Make rs104893989(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position45431963
GeneRUNX2
is asnp
is mentioned by
dbSNPrs104893989
ebirs104893989
HLIrs104893989
Exacrs104893989
Varsomers104893989
Maprs104893989
PheGenIrs104893989
hapmaprs104893989
1000 genomesrs104893989
hgdprs104893989
ensemblrs104893989
gopubmedrs104893989
geneviewrs104893989
scholarrs104893989
googlers104893989
pharmgkbrs104893989
gwascentralrs104893989
openSNPrs104893989
23andMers104893989
23andMe allrs104893989
SNP Nexus

SNPshotrs104893989
SNPdbers104893989
MSV3drs104893989
GWAS Ctlgrs104893989
Max Magnitude0
OMIM600211
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893989(C,G;C,G)
Alt rs104893989(C,G;C,G)
Reference rs104893989(T;T)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45399700T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009881.5,