rs193922137

Orientation

minus

Stabilized

minus

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

Make rs193922137(G;T)

Make rs193922137(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50195958

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922137
dbSNP (classic)	rs193922137
ClinGen	rs193922137
ebi	rs193922137
HLI	rs193922137
Exac	rs193922137
Gnomad	rs193922137
Varsome	rs193922137
LitVar	rs193922137
Map	rs193922137
PheGenI	rs193922137
Biobank	rs193922137
1000 genomes	rs193922137
hgdp	rs193922137
ensembl	rs193922137
geneview	rs193922137
scholar	rs193922137
google	rs193922137
pharmgkb	rs193922137
gwascentral	rs193922137
openSNP	rs193922137
23andMe	rs193922137
SNPshot	rs193922137
SNPdbe	rs193922137
MSV3d	rs193922137
GWAS Ctlg	rs193922137

Max Magnitude

0

ClinVar
Risk	rs193922137(T;T)
Alt	rs193922137(T;T)
Reference	Rs193922137(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48273319C>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029551.1,