rs193922141

Orientation

minus

Stabilized

minus

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

Make rs193922141(-;-)

Make rs193922141(-;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50194141

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922141
dbSNP (classic)	rs193922141
ClinGen	rs193922141
ebi	rs193922141
HLI	rs193922141
Exac	rs193922141
Gnomad	rs193922141
Varsome	rs193922141
LitVar	rs193922141
Map	rs193922141
PheGenI	rs193922141
Biobank	rs193922141
1000 genomes	rs193922141
hgdp	rs193922141
ensembl	rs193922141
geneview	rs193922141
scholar	rs193922141
google	rs193922141
pharmgkb	rs193922141
gwascentral	rs193922141
openSNP	rs193922141
23andMe	rs193922141
SNPshot	rs193922141
SNPdbe	rs193922141
MSV3d	rs193922141
GWAS Ctlg	rs193922141

Max Magnitude

0

ClinVar
Risk	rs193922141(-;-)
Alt	rs193922141(-;-)
Reference	Rs193922141(A;A)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48271502delT
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029558.1,