rs886042260

Orientation

plus

Stabilized

plus

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

Chromosome

17

Position

50190344

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs886042260
dbSNP (classic)	rs886042260
ClinGen	rs886042260
ebi	rs886042260
HLI	rs886042260
Exac	rs886042260
Gnomad	rs886042260
Varsome	rs886042260
LitVar	rs886042260
Map	rs886042260
PheGenI	rs886042260
Biobank	rs886042260
1000 genomes	rs886042260
hgdp	rs886042260
ensembl	rs886042260
geneview	rs886042260
scholar	rs886042260
google	rs886042260
pharmgkb	rs886042260
gwascentral	rs886042260
openSNP	rs886042260
23andMe	rs886042260
SNPshot	rs886042260
SNPdbe	rs886042260
MSV3d	rs886042260
GWAS Ctlg	rs886042260

Max Magnitude

0

ClinVar
Risk	rs886042260(T;T)
Alt	rs886042260(T;T)
Reference	Rs886042260(C;C)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal Osteogenesis imperfecta type I
Reversed	0
HGVS	NC_000017.10:g.48267705C>T
CLNSRC
CLNACC	RCV000343072.1, RCV000400501.1,