rs193922158

Orientation

minus

Stabilized

minus

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

Make rs193922158(A;G)

Make rs193922158(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50197065

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922158
dbSNP (classic)	rs193922158
ClinGen	rs193922158
ebi	rs193922158
HLI	rs193922158
Exac	rs193922158
Gnomad	rs193922158
Varsome	rs193922158
LitVar	rs193922158
Map	rs193922158
PheGenI	rs193922158
Biobank	rs193922158
1000 genomes	rs193922158
hgdp	rs193922158
ensembl	rs193922158
geneview	rs193922158
scholar	rs193922158
google	rs193922158
pharmgkb	rs193922158
gwascentral	rs193922158
openSNP	rs193922158
23andMe	rs193922158
SNPshot	rs193922158
SNPdbe	rs193922158
MSV3d	rs193922158
GWAS Ctlg	rs193922158

Max Magnitude

0

ClinVar
Risk	rs193922158(G;G)
Alt	rs193922158(G;G)
Reference	Rs193922158(A;A)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48274426T>C
CLNSRC	ClinVar
CLNACC	RCV000029583.1,