rs193922150

Orientation

minus

Stabilized

minus

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

Make rs193922150(A;A)

Make rs193922150(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50189878

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922150
dbSNP (classic)	rs193922150
ClinGen	rs193922150
ebi	rs193922150
HLI	rs193922150
Exac	rs193922150
Gnomad	rs193922150
Varsome	rs193922150
LitVar	rs193922150
Map	rs193922150
PheGenI	rs193922150
Biobank	rs193922150
1000 genomes	rs193922150
hgdp	rs193922150
ensembl	rs193922150
geneview	rs193922150
scholar	rs193922150
google	rs193922150
pharmgkb	rs193922150
gwascentral	rs193922150
openSNP	rs193922150
23andMe	rs193922150
SNPshot	rs193922150
SNPdbe	rs193922150
MSV3d	rs193922150
GWAS Ctlg	rs193922150

Max Magnitude

0

ClinVar
Risk	rs193922150(A;A)
Alt	rs193922150(A;A)
Reference	Rs193922150(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48267239C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029569.1,