rs104893992

Orientation

plus

Stabilized

plus

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

Make rs104893992(C;T)

Make rs104893992(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

45438039

Gene

RUNX2

is a	snp
is	mentioned by
dbSNP	rs104893992
dbSNP (classic)	rs104893992
ClinGen	rs104893992
ebi	rs104893992
HLI	rs104893992
Exac	rs104893992
Gnomad	rs104893992
Varsome	rs104893992
LitVar	rs104893992
Map	rs104893992
PheGenI	rs104893992
Biobank	rs104893992
1000 genomes	rs104893992
hgdp	rs104893992
ensembl	rs104893992
geneview	rs104893992
scholar	rs104893992
google	rs104893992
pharmgkb	rs104893992
gwascentral	rs104893992
openSNP	rs104893992
23andMe	rs104893992
SNPshot	rs104893992
SNPdbe	rs104893992
MSV3d	rs104893992
GWAS Ctlg	rs104893992

Max Magnitude

0

OMIM	600211
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104893992(T;T)
Alt	rs104893992(T;T)
Reference	Rs104893992(C;C)
Significance	Pathogenic
Disease	Cleidocranial dysostosis
Variation	info
Gene	RUNX2
CLNDBN	Cleidocranial dysostosis
Reversed	0
HGVS	NC_000006.11:g.45405776C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009886.5,