rs193922153

Orientation

minus

Stabilized

minus

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

Make rs193922153(C;T)

Make rs193922153(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50189173

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922153
dbSNP (classic)	rs193922153
ClinGen	rs193922153
ebi	rs193922153
HLI	rs193922153
Exac	rs193922153
Gnomad	rs193922153
Varsome	rs193922153
LitVar	rs193922153
Map	rs193922153
PheGenI	rs193922153
Biobank	rs193922153
1000 genomes	rs193922153
hgdp	rs193922153
ensembl	rs193922153
geneview	rs193922153
scholar	rs193922153
google	rs193922153
pharmgkb	rs193922153
gwascentral	rs193922153
openSNP	rs193922153
23andMe	rs193922153
SNPshot	rs193922153
SNPdbe	rs193922153
MSV3d	rs193922153
GWAS Ctlg	rs193922153

Max Magnitude

0

ClinVar
Risk	rs193922153(T;T)
Alt	rs193922153(T;T)
Reference	Rs193922153(C;C)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48266534G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029573.1,

[PMID 16786509] Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.