rs193922145

Orientation

minus

Stabilized

minus

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

Make rs193922145(C;T)

Make rs193922145(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50191457

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922145
dbSNP (classic)	rs193922145
ClinGen	rs193922145
ebi	rs193922145
HLI	rs193922145
Exac	rs193922145
Gnomad	rs193922145
Varsome	rs193922145
LitVar	rs193922145
Map	rs193922145
PheGenI	rs193922145
Biobank	rs193922145
1000 genomes	rs193922145
hgdp	rs193922145
ensembl	rs193922145
geneview	rs193922145
scholar	rs193922145
google	rs193922145
pharmgkb	rs193922145
gwascentral	rs193922145
openSNP	rs193922145
23andMe	rs193922145
SNPshot	rs193922145
SNPdbe	rs193922145
MSV3d	rs193922145
GWAS Ctlg	rs193922145

Max Magnitude

0

ClinVar
Risk	rs193922145(T;T)
Alt	rs193922145(T;T)
Reference	Rs193922145(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48268818G>A
CLNSRC	ClinVar
CLNACC	RCV000029563.1, RCV000403934.1,