rs104893994

Orientation

plus

Stabilized

plus

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

Make rs104893994(C;C)

Make rs104893994(C;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

45547304

Gene

RUNX2

is a	snp
is	mentioned by
dbSNP	rs104893994
dbSNP (classic)	rs104893994
ClinGen	rs104893994
ebi	rs104893994
HLI	rs104893994
Exac	rs104893994
Gnomad	rs104893994
Varsome	rs104893994
LitVar	rs104893994
Map	rs104893994
PheGenI	rs104893994
Biobank	rs104893994
1000 genomes	rs104893994
hgdp	rs104893994
ensembl	rs104893994
geneview	rs104893994
scholar	rs104893994
google	rs104893994
pharmgkb	rs104893994
gwascentral	rs104893994
openSNP	rs104893994
23andMe	rs104893994
SNPshot	rs104893994
SNPdbe	rs104893994
MSV3d	rs104893994
GWAS Ctlg	rs104893994

Max Magnitude

0

OMIM	600211
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104893994(C;C)
Alt	rs104893994(C;C)
Reference	Rs104893994(G;G)
Significance	Pathogenic
Disease	Cleidocranial dysostosis
Variation	info
Gene	RUNX2
CLNDBN	Cleidocranial dysostosis
Reversed	0
HGVS	NC_000006.11:g.45515041G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009889.3,