rs67368147

Orientation

minus

Stabilized

minus

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

Make rs67368147(A;A)

Make rs67368147(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50191805

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs67368147
dbSNP (classic)	rs67368147
ClinGen	rs67368147
ebi	rs67368147
HLI	rs67368147
Exac	rs67368147
Gnomad	rs67368147
Varsome	rs67368147
LitVar	rs67368147
Map	rs67368147
PheGenI	rs67368147
Biobank	rs67368147
1000 genomes	rs67368147
hgdp	rs67368147
ensembl	rs67368147
geneview	rs67368147
scholar	rs67368147
google	rs67368147
pharmgkb	rs67368147
gwascentral	rs67368147
openSNP	rs67368147
23andMe	rs67368147
SNPshot	rs67368147
SNPdbe	rs67368147
MSV3d	rs67368147
GWAS Ctlg	rs67368147

Max Magnitude

0

OMIM	120150
Desc
Variant	0005
Related	also

ClinVar
Risk	rs67368147(A;A) rs67368147(T;T)
Alt	rs67368147(A;A) rs67368147(T;T)
Reference	Rs67368147(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form
Reversed	1
HGVS	NC_000017.10:g.48269166C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018829.27, RCV000490665.1,