rs398122835

Orientation

minus

Stabilized

minus

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

Make rs398122835(-;-)

Make rs398122835(-;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50185779

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs398122835
dbSNP (classic)	rs398122835
ClinGen	rs398122835
ebi	rs398122835
HLI	rs398122835
Exac	rs398122835
Gnomad	rs398122835
Varsome	rs398122835
LitVar	rs398122835
Map	rs398122835
PheGenI	rs398122835
Biobank	rs398122835
1000 genomes	rs398122835
hgdp	rs398122835
ensembl	rs398122835
geneview	rs398122835
scholar	rs398122835
google	rs398122835
pharmgkb	rs398122835
gwascentral	rs398122835
openSNP	rs398122835
23andMe	rs398122835
SNPshot	rs398122835
SNPdbe	rs398122835
MSV3d	rs398122835
GWAS Ctlg	rs398122835

Max Magnitude

0

ClinVar
Risk	rs398122835(-;-)
Alt	rs398122835(-;-)
Reference	Rs398122835(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48263140delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034354.29,