rs193922138

Orientation

minus

Stabilized

minus

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

Make rs193922138(C;G)

Make rs193922138(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50195296

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922138
dbSNP (classic)	rs193922138
ClinGen	rs193922138
ebi	rs193922138
HLI	rs193922138
Exac	rs193922138
Gnomad	rs193922138
Varsome	rs193922138
LitVar	rs193922138
Map	rs193922138
PheGenI	rs193922138
Biobank	rs193922138
1000 genomes	rs193922138
hgdp	rs193922138
ensembl	rs193922138
geneview	rs193922138
scholar	rs193922138
google	rs193922138
pharmgkb	rs193922138
gwascentral	rs193922138
openSNP	rs193922138
23andMe	rs193922138
SNPshot	rs193922138
SNPdbe	rs193922138
MSV3d	rs193922138
GWAS Ctlg	rs193922138

Max Magnitude

0

ClinVar
Risk	rs193922138(G;G)
Alt	rs193922138(G;G)
Reference	Rs193922138(C;C)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48272657G>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029554.1,