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rs730880315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730880315(-;C)
Make rs730880315(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position45546967
GeneRUNX2
is asnp
is mentioned by
dbSNPrs730880315
dbSNP (old)rs730880315
ClinGenrs730880315
ebirs730880315
HLIrs730880315
Exacrs730880315
Gnomadrs730880315
Varsomers730880315
Maprs730880315
PheGenIrs730880315
Biobankrs730880315
1000 genomesrs730880315
hgdprs730880315
ensemblrs730880315
gopubmedrs730880315
geneviewrs730880315
scholarrs730880315
googlers730880315
pharmgkbrs730880315
gwascentralrs730880315
openSNPrs730880315
23andMers730880315
23andMe allrs730880315
SNP Nexus

SNPshotrs730880315
SNPdbers730880315
MSV3drs730880315
GWAS Ctlgrs730880315
Max Magnitude0
ClinVar
Risk rs730880315(C;C)
Alt rs730880315(C;C)
Reference Rs730880315(-;-)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45514704dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009891.3,