rs139446305

Orientation

plus

Stabilized

plus

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

Make rs139446305(A;A)

Make rs139446305(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94411099

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs139446305
dbSNP (classic)	rs139446305
ClinGen	rs139446305
ebi	rs139446305
HLI	rs139446305
Exac	rs139446305
Gnomad	rs139446305
Varsome	rs139446305
LitVar	rs139446305
Map	rs139446305
PheGenI	rs139446305
Biobank	rs139446305
1000 genomes	rs139446305
hgdp	rs139446305
ensembl	rs139446305
geneview	rs139446305
scholar	rs139446305
google	rs139446305
pharmgkb	rs139446305
gwascentral	rs139446305
openSNP	rs139446305
23andMe	rs139446305
SNPshot	rs139446305
SNPdbe	rs139446305
MSV3d	rs139446305
GWAS Ctlg	rs139446305

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs139446305(A;A)
Alt	rs139446305(A;A)
Reference	Rs139446305(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta not specified
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta not specified
Reversed	0
HGVS	NC_000007.13:g.94040411G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029590.1, RCV000412879.1,