rs794727394

Orientation

minus

Stabilized

minus

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

Make rs794727394(G;G)

Make rs794727394(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

50193941

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs794727394
dbSNP (classic)	rs794727394
ClinGen	rs794727394
ebi	rs794727394
HLI	rs794727394
Exac	rs794727394
Gnomad	rs794727394
Varsome	rs794727394
LitVar	rs794727394
Map	rs794727394
PheGenI	rs794727394
Biobank	rs794727394
1000 genomes	rs794727394
hgdp	rs794727394
ensembl	rs794727394
geneview	rs794727394
scholar	rs794727394
google	rs794727394
pharmgkb	rs794727394
gwascentral	rs794727394
openSNP	rs794727394
23andMe	rs794727394
SNPshot	rs794727394
SNPdbe	rs794727394
MSV3d	rs794727394
GWAS Ctlg	rs794727394

Max Magnitude

0

ClinVar
Risk	rs794727394(G;G)
Alt	rs794727394(G;G)
Reference	Rs794727394(T;T)
Significance	Pathogenic
Disease	not provided Osteogenesis imperfecta Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	not provided Osteogenesis imperfecta, recessive perinatal lethal Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48271302A>C
CLNSRC
CLNACC	RCV000176518.1, RCV000275648.1, RCV000330672.1,