rs193922148

Orientation

minus

Stabilized

minus

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

Make rs193922148(-;-)

Make rs193922148(-;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50190360

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922148
dbSNP (classic)	rs193922148
ClinGen	rs193922148
ebi	rs193922148
HLI	rs193922148
Exac	rs193922148
Gnomad	rs193922148
Varsome	rs193922148
LitVar	rs193922148
Map	rs193922148
PheGenI	rs193922148
Biobank	rs193922148
1000 genomes	rs193922148
hgdp	rs193922148
ensembl	rs193922148
geneview	rs193922148
scholar	rs193922148
google	rs193922148
pharmgkb	rs193922148
gwascentral	rs193922148
openSNP	rs193922148
23andMe	rs193922148
SNPshot	rs193922148
SNPdbe	rs193922148
MSV3d	rs193922148
GWAS Ctlg	rs193922148

Max Magnitude

0

ClinVar
Risk	rs193922148(-;-)
Alt	rs193922148(-;-)
Reference	Rs193922148(T;T)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48267721delA
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029566.1,