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rs730880314

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880314(-;-)
Make rs730880314(-;C)
Make rs730880314(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position45546944
GeneRUNX2
is asnp
is mentioned by
dbSNPrs730880314
ebirs730880314
HLIrs730880314
Exacrs730880314
Varsomers730880314
Maprs730880314
PheGenIrs730880314
hapmaprs730880314
1000 genomesrs730880314
hgdprs730880314
ensemblrs730880314
gopubmedrs730880314
geneviewrs730880314
scholarrs730880314
googlers730880314
pharmgkbrs730880314
gwascentralrs730880314
openSNPrs730880314
23andMers730880314
23andMe allrs730880314
SNP Nexus

SNPshotrs730880314
SNPdbers730880314
MSV3drs730880314
GWAS Ctlgrs730880314
Max Magnitude0
ClinVar
Risk rs730880314(C;C)
Alt rs730880314(C;C)
Reference rs730880314(;)
Significance Pathogenic
Disease Cleidocranial dysplasia
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysplasia, severe, with osteoporosis and scoliosis
Reversed 0
HGVS NC_000006.11:g.45514681dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009884.3,