rs104893990

Orientation

plus

Stabilized

plus

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

Make rs104893990(A;A)

Make rs104893990(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

45432011

Gene

RUNX2

is a	snp
is	mentioned by
dbSNP	rs104893990
dbSNP (classic)	rs104893990
ClinGen	rs104893990
ebi	rs104893990
HLI	rs104893990
Exac	rs104893990
Gnomad	rs104893990
Varsome	rs104893990
LitVar	rs104893990
Map	rs104893990
PheGenI	rs104893990
Biobank	rs104893990
1000 genomes	rs104893990
hgdp	rs104893990
ensembl	rs104893990
geneview	rs104893990
scholar	rs104893990
google	rs104893990
pharmgkb	rs104893990
gwascentral	rs104893990
openSNP	rs104893990
23andMe	rs104893990
SNPshot	rs104893990
SNPdbe	rs104893990
MSV3d	rs104893990
GWAS Ctlg	rs104893990

Max Magnitude

0

OMIM	600211
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893990(A;A)
Alt	rs104893990(A;A)
Reference	Rs104893990(G;G)
Significance	Pathogenic
Disease	Cleidocranial dysostosis
Variation	info
Gene	RUNX2
CLNDBN	Cleidocranial dysostosis
Reversed	0
HGVS	NC_000006.11:g.45399748G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009882.5,