rs794726873

Orientation

minus

Stabilized

minus

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

Make rs794726873(C;T)

Make rs794726873(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

50201423

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs794726873
dbSNP (classic)	rs794726873
ClinGen	rs794726873
ebi	rs794726873
HLI	rs794726873
Exac	rs794726873
Gnomad	rs794726873
Varsome	rs794726873
LitVar	rs794726873
Map	rs794726873
PheGenI	rs794726873
Biobank	rs794726873
1000 genomes	rs794726873
hgdp	rs794726873
ensembl	rs794726873
geneview	rs794726873
scholar	rs794726873
google	rs794726873
pharmgkb	rs794726873
gwascentral	rs794726873
openSNP	rs794726873
23andMe	rs794726873
SNPshot	rs794726873
SNPdbe	rs794726873
MSV3d	rs794726873
GWAS Ctlg	rs794726873

Max Magnitude

0

ClinVar
Risk	rs794726873(T;T)
Alt	rs794726873(T;T)
Reference	Rs794726873(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48278784G>A
CLNSRC
CLNACC	RCV000173062.1, RCV000173063.1, RCV000350015.1,