rs104893993

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs104893993(A;G)

Make rs104893993(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

45437964

Gene

RUNX2

is a	snp
is	mentioned by
dbSNP	rs104893993
dbSNP (classic)	rs104893993
ClinGen	rs104893993
ebi	rs104893993
HLI	rs104893993
Exac	rs104893993
Gnomad	rs104893993
Varsome	rs104893993
LitVar	rs104893993
Map	rs104893993
PheGenI	rs104893993
Biobank	rs104893993
1000 genomes	rs104893993
hgdp	rs104893993
ensembl	rs104893993
geneview	rs104893993
scholar	rs104893993
google	rs104893993
pharmgkb	rs104893993
gwascentral	rs104893993
openSNP	rs104893993
23andMe	rs104893993
SNPshot	rs104893993
SNPdbe	rs104893993
MSV3d	rs104893993
GWAS Ctlg	rs104893993

Max Magnitude

0

OMIM	600211
Desc
Variant	0010
Related	also

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 UniProtKB (protein)
CLNACC	RCV000009887.5, RCV000009888.4,