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rs104893991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893991(A;A)
Make rs104893991(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position45438040
GeneRUNX2
is asnp
is mentioned by
dbSNPrs104893991
ebirs104893991
HLIrs104893991
Exacrs104893991
Varsomers104893991
Maprs104893991
PheGenIrs104893991
hapmaprs104893991
1000 genomesrs104893991
hgdprs104893991
ensemblrs104893991
gopubmedrs104893991
geneviewrs104893991
scholarrs104893991
googlers104893991
pharmgkbrs104893991
gwascentralrs104893991
openSNPrs104893991
23andMers104893991
23andMe allrs104893991
SNP Nexus

SNPshotrs104893991
SNPdbers104893991
MSV3drs104893991
GWAS Ctlgrs104893991
Max Magnitude0
OMIM600211
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893991(A;A)
Alt rs104893991(A;A)
Reference rs104893991(G;G)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45405777G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009885.5,