rs104893995

Orientation

plus

Stabilized

plus

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

Make rs104893995(C;C)

Make rs104893995(C;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

45431945

Gene

RUNX2

is a	snp
is	mentioned by
dbSNP	rs104893995
dbSNP (classic)	rs104893995
ClinGen	rs104893995
ebi	rs104893995
HLI	rs104893995
Exac	rs104893995
Gnomad	rs104893995
Varsome	rs104893995
LitVar	rs104893995
Map	rs104893995
PheGenI	rs104893995
Biobank	rs104893995
1000 genomes	rs104893995
hgdp	rs104893995
ensembl	rs104893995
geneview	rs104893995
scholar	rs104893995
google	rs104893995
pharmgkb	rs104893995
gwascentral	rs104893995
openSNP	rs104893995
23andMe	rs104893995
SNPshot	rs104893995
SNPdbe	rs104893995
MSV3d	rs104893995
GWAS Ctlg	rs104893995

Max Magnitude

0

OMIM	600211
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104893995(A;A) rs104893995(C;C)
Alt	rs104893995(A;A) rs104893995(C;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 UniProtKB (protein)
CLNACC	RCV000009890.4,