rs193922159

Orientation

plus

Stabilized

plus

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

Make rs193922159(A;A)

Make rs193922159(A;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94410478

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs193922159
dbSNP (classic)	rs193922159
ClinGen	rs193922159
ebi	rs193922159
HLI	rs193922159
Exac	rs193922159
Gnomad	rs193922159
Varsome	rs193922159
LitVar	rs193922159
Map	rs193922159
PheGenI	rs193922159
Biobank	rs193922159
1000 genomes	rs193922159
hgdp	rs193922159
ensembl	rs193922159
geneview	rs193922159
scholar	rs193922159
google	rs193922159
pharmgkb	rs193922159
gwascentral	rs193922159
openSNP	rs193922159
23andMe	rs193922159
SNPshot	rs193922159
SNPdbe	rs193922159
MSV3d	rs193922159
GWAS Ctlg	rs193922159

Max Magnitude

0

ClinVar
Risk	rs193922159(A;A)
Alt	rs193922159(A;A)
Reference	Rs193922159(C;C)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta
Reversed	0
HGVS	NC_000007.13:g.94039790C>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029589.1,