rs193922140

Orientation

minus

Stabilized

minus

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

Make rs193922140(C;C)

Make rs193922140(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50194419

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922140
dbSNP (classic)	rs193922140
ClinGen	rs193922140
ebi	rs193922140
HLI	rs193922140
Exac	rs193922140
Gnomad	rs193922140
Varsome	rs193922140
LitVar	rs193922140
Map	rs193922140
PheGenI	rs193922140
Biobank	rs193922140
1000 genomes	rs193922140
hgdp	rs193922140
ensembl	rs193922140
geneview	rs193922140
scholar	rs193922140
google	rs193922140
pharmgkb	rs193922140
gwascentral	rs193922140
openSNP	rs193922140
23andMe	rs193922140
SNPshot	rs193922140
SNPdbe	rs193922140
MSV3d	rs193922140
GWAS Ctlg	rs193922140

Max Magnitude

0

ClinVar
Risk	rs193922140(C;C)
Alt	rs193922140(C;C)
Reference	Rs193922140(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48271780C>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029556.1,