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rs104893990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893990(A;A)
Make rs104893990(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position45432011
GeneRUNX2
is asnp
is mentioned by
dbSNPrs104893990
ebirs104893990
HLIrs104893990
Exacrs104893990
Varsomers104893990
Maprs104893990
PheGenIrs104893990
hapmaprs104893990
1000 genomesrs104893990
hgdprs104893990
ensemblrs104893990
gopubmedrs104893990
geneviewrs104893990
scholarrs104893990
googlers104893990
pharmgkbrs104893990
gwascentralrs104893990
openSNPrs104893990
23andMers104893990
23andMe allrs104893990
SNP Nexus

SNPshotrs104893990
SNPdbers104893990
MSV3drs104893990
GWAS Ctlgrs104893990
Max Magnitude0
OMIM600211
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893990(A;A)
Alt rs104893990(A;A)
Reference rs104893990(G;G)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45399748G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009882.4,