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rs104893995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893995(C;C)
Make rs104893995(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position45431945
GeneRUNX2
is asnp
is mentioned by
dbSNPrs104893995
ebirs104893995
HLIrs104893995
Exacrs104893995
Varsomers104893995
Maprs104893995
PheGenIrs104893995
hapmaprs104893995
1000 genomesrs104893995
hgdprs104893995
ensemblrs104893995
gopubmedrs104893995
geneviewrs104893995
scholarrs104893995
googlers104893995
pharmgkbrs104893995
gwascentralrs104893995
openSNPrs104893995
23andMers104893995
23andMe allrs104893995
SNP Nexus

SNPshotrs104893995
SNPdbers104893995
MSV3drs104893995
GWAS Ctlgrs104893995
Max Magnitude0
OMIM600211
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893995(A,C;A,C)
Alt rs104893995(A,C;A,C)
Reference rs104893995(G;G)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45399682G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009890.3,