rs193922149

Orientation

minus

Stabilized

minus

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

Make rs193922149(-;-)

Make rs193922149(-;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50190328

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922149
dbSNP (classic)	rs193922149
ClinGen	rs193922149
ebi	rs193922149
HLI	rs193922149
Exac	rs193922149
Gnomad	rs193922149
Varsome	rs193922149
LitVar	rs193922149
Map	rs193922149
PheGenI	rs193922149
Biobank	rs193922149
1000 genomes	rs193922149
hgdp	rs193922149
ensembl	rs193922149
geneview	rs193922149
scholar	rs193922149
google	rs193922149
pharmgkb	rs193922149
gwascentral	rs193922149
openSNP	rs193922149
23andMe	rs193922149
SNPshot	rs193922149
SNPdbe	rs193922149
MSV3d	rs193922149
GWAS Ctlg	rs193922149

Max Magnitude

0

ClinVar
Risk	rs193922149(-;-)
Alt	rs193922149(-;-)
Reference	Rs193922149(C;C)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48267689delG
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029567.1,