rs193922143

Orientation

minus

Stabilized

minus

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

Make rs193922143(-;-)

Make rs193922143(-;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50193003

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922143
dbSNP (classic)	rs193922143
ClinGen	rs193922143
ebi	rs193922143
HLI	rs193922143
Exac	rs193922143
Gnomad	rs193922143
Varsome	rs193922143
LitVar	rs193922143
Map	rs193922143
PheGenI	rs193922143
Biobank	rs193922143
1000 genomes	rs193922143
hgdp	rs193922143
ensembl	rs193922143
geneview	rs193922143
scholar	rs193922143
google	rs193922143
pharmgkb	rs193922143
gwascentral	rs193922143
openSNP	rs193922143
23andMe	rs193922143
SNPshot	rs193922143
SNPdbe	rs193922143
MSV3d	rs193922143
GWAS Ctlg	rs193922143

Max Magnitude

0

ClinVar
Risk	rs193922143(-;-)
Alt	rs193922143(-;-)
Reference	Rs193922143(T;T)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48270364delA
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029560.1,