rs193922147

Orientation

minus

Stabilized

minus

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

Make rs193922147(C;C)

Make rs193922147(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50190381

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922147
dbSNP (classic)	rs193922147
ClinGen	rs193922147
ebi	rs193922147
HLI	rs193922147
Exac	rs193922147
Gnomad	rs193922147
Varsome	rs193922147
LitVar	rs193922147
Map	rs193922147
PheGenI	rs193922147
Biobank	rs193922147
1000 genomes	rs193922147
hgdp	rs193922147
ensembl	rs193922147
geneview	rs193922147
scholar	rs193922147
google	rs193922147
pharmgkb	rs193922147
gwascentral	rs193922147
openSNP	rs193922147
23andMe	rs193922147
SNPshot	rs193922147
SNPdbe	rs193922147
MSV3d	rs193922147
GWAS Ctlg	rs193922147

Max Magnitude

0

ClinVar
Risk	rs193922147(C;C) rs193922147(T;T)
Alt	rs193922147(C;C) rs193922147(T;T)
Reference	Rs193922147(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48267742C>G
CLNSRC	ClinVar
CLNACC	RCV000029565.1,