rs193922151

Orientation

minus

Stabilized

minus

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

Make rs193922151(-;-)

Make rs193922151(-;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50189521

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922151
dbSNP (classic)	rs193922151
ClinGen	rs193922151
ebi	rs193922151
HLI	rs193922151
Exac	rs193922151
Gnomad	rs193922151
Varsome	rs193922151
LitVar	rs193922151
Map	rs193922151
PheGenI	rs193922151
Biobank	rs193922151
1000 genomes	rs193922151
hgdp	rs193922151
ensembl	rs193922151
geneview	rs193922151
scholar	rs193922151
google	rs193922151
pharmgkb	rs193922151
gwascentral	rs193922151
openSNP	rs193922151
23andMe	rs193922151
SNPshot	rs193922151
SNPdbe	rs193922151
MSV3d	rs193922151
GWAS Ctlg	rs193922151

Max Magnitude

0

ClinVar
Risk	rs193922151(-;-)
Alt	rs193922151(-;-)
Reference	Rs193922151(T;T)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48266882delA
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029571.1,