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rs104893993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893993(A;G)
Make rs104893993(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position45437964
GeneRUNX2
is asnp
is mentioned by
dbSNPrs104893993
ebirs104893993
HLIrs104893993
Exacrs104893993
Varsomers104893993
Maprs104893993
PheGenIrs104893993
hapmaprs104893993
1000 genomesrs104893993
hgdprs104893993
ensemblrs104893993
gopubmedrs104893993
geneviewrs104893993
scholarrs104893993
googlers104893993
pharmgkbrs104893993
gwascentralrs104893993
openSNPrs104893993
23andMers104893993
23andMe allrs104893993
SNP Nexus

SNPshotrs104893993
SNPdbers104893993
MSV3drs104893993
GWAS Ctlgrs104893993
Max Magnitude0
OMIM600211
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893993(G;G)
Alt rs104893993(G;G)
Reference rs104893993(A;A)
Significance Pathogenic
Disease Cleidocranial dysostosis Cleidocranial dysplasia
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis Cleidocranial dysplasia, forme fruste, dental anomalies only
Reversed 0
HGVS NC_000006.11:g.45405701A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009887.4, RCV000009888.3,