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rs104893988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893988(A;A)
Make rs104893988(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position45512277
GeneRUNX2
is asnp
is mentioned by
dbSNPrs104893988
ebirs104893988
HLIrs104893988
Exacrs104893988
Varsomers104893988
Maprs104893988
PheGenIrs104893988
hapmaprs104893988
1000 genomesrs104893988
hgdprs104893988
ensemblrs104893988
gopubmedrs104893988
geneviewrs104893988
scholarrs104893988
googlers104893988
pharmgkbrs104893988
gwascentralrs104893988
openSNPrs104893988
23andMers104893988
23andMe allrs104893988
SNP Nexus

SNPshotrs104893988
SNPdbers104893988
MSV3drs104893988
GWAS Ctlgrs104893988
Max Magnitude0
OMIM600211
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893988(A;A)
Alt rs104893988(A;A)
Reference rs104893988(G;G)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45480014G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009879.3,