rs193922154

Orientation

minus

Stabilized

minus

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

Make rs193922154(-;-)

Make rs193922154(-;AG)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50199589

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922154
dbSNP (classic)	rs193922154
ClinGen	rs193922154
ebi	rs193922154
HLI	rs193922154
Exac	rs193922154
Gnomad	rs193922154
Varsome	rs193922154
LitVar	rs193922154
Map	rs193922154
PheGenI	rs193922154
Biobank	rs193922154
1000 genomes	rs193922154
hgdp	rs193922154
ensembl	rs193922154
geneview	rs193922154
scholar	rs193922154
google	rs193922154
pharmgkb	rs193922154
gwascentral	rs193922154
openSNP	rs193922154
23andMe	rs193922154
SNPshot	rs193922154
SNPdbe	rs193922154
MSV3d	rs193922154
GWAS Ctlg	rs193922154

Max Magnitude

0

ClinVar
Risk	rs193922154(-;-)
Alt	rs193922154(-;-)
Reference	Rs193922154(AG;AG)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48276950_48276951delCT
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029574.1,