rs886042286

Orientation

plus

Stabilized

plus

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

Chromosome

17

Position

50186887

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs886042286
dbSNP (classic)	rs886042286
ClinGen	rs886042286
ebi	rs886042286
HLI	rs886042286
Exac	rs886042286
Gnomad	rs886042286
Varsome	rs886042286
LitVar	rs886042286
Map	rs886042286
PheGenI	rs886042286
Biobank	rs886042286
1000 genomes	rs886042286
hgdp	rs886042286
ensembl	rs886042286
geneview	rs886042286
scholar	rs886042286
google	rs886042286
pharmgkb	rs886042286
gwascentral	rs886042286
openSNP	rs886042286
23andMe	rs886042286
SNPshot	rs886042286
SNPdbe	rs886042286
MSV3d	rs886042286
GWAS Ctlg	rs886042286

Max Magnitude

0

ClinVar
Risk	rs886042286(-;-)
Alt	rs886042286(-;-)
Reference	Rs886042286(A;A)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000017.10:g.48264248delA
CLNSRC
CLNACC	RCV000289700.2, RCV000344709.1,