rs193922144

Orientation

minus

Stabilized

minus

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

Make rs193922144(C;T)

Make rs193922144(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50191853

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922144
dbSNP (classic)	rs193922144
ClinGen	rs193922144
ebi	rs193922144
HLI	rs193922144
Exac	rs193922144
Gnomad	rs193922144
Varsome	rs193922144
LitVar	rs193922144
Map	rs193922144
PheGenI	rs193922144
Biobank	rs193922144
1000 genomes	rs193922144
hgdp	rs193922144
ensembl	rs193922144
geneview	rs193922144
scholar	rs193922144
google	rs193922144
pharmgkb	rs193922144
gwascentral	rs193922144
openSNP	rs193922144
23andMe	rs193922144
SNPshot	rs193922144
SNPdbe	rs193922144
MSV3d	rs193922144
GWAS Ctlg	rs193922144

Max Magnitude

0

ClinVar
Risk	rs193922144(T;T)
Alt	rs193922144(T;T)
Reference	Rs193922144(C;C)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48269214G>A
CLNSRC	ClinVar
CLNACC	RCV000029562.1,