rs144751329

Orientation

plus

Stabilized

plus

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

Make rs144751329(C;T)

Make rs144751329(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50194380

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs144751329
dbSNP (classic)	rs144751329
ClinGen	rs144751329
ebi	rs144751329
HLI	rs144751329
Exac	rs144751329
Gnomad	rs144751329
Varsome	rs144751329
LitVar	rs144751329
Map	rs144751329
PheGenI	rs144751329
Biobank	rs144751329
1000 genomes	rs144751329
hgdp	rs144751329
ensembl	rs144751329
geneview	rs144751329
scholar	rs144751329
google	rs144751329
pharmgkb	rs144751329
gwascentral	rs144751329
openSNP	rs144751329
23andMe	rs144751329
SNPshot	rs144751329
SNPdbe	rs144751329
MSV3d	rs144751329
GWAS Ctlg	rs144751329

Max Magnitude

0

ClinVar
Risk	rs144751329(T;T)
Alt	rs144751329(T;T)
Reference	Rs144751329(C;C)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	0
HGVS	NC_000017.10:g.48271741C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029557.1,