rs72667037

Orientation

minus

Stabilized

minus

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

Make rs72667037(G;T)

Make rs72667037(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50197767

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72667037
dbSNP (classic)	rs72667037
ClinGen	rs72667037
ebi	rs72667037
HLI	rs72667037
Exac	rs72667037
Gnomad	rs72667037
Varsome	rs72667037
LitVar	rs72667037
Map	rs72667037
PheGenI	rs72667037
Biobank	rs72667037
1000 genomes	rs72667037
hgdp	rs72667037
ensembl	rs72667037
geneview	rs72667037
scholar	rs72667037
google	rs72667037
pharmgkb	rs72667037
gwascentral	rs72667037
openSNP	rs72667037
23andMe	rs72667037
SNPshot	rs72667037
SNPdbe	rs72667037
MSV3d	rs72667037
GWAS Ctlg	rs72667037

Max Magnitude

0

OMIM	120150
Desc
Variant	0038
Related	also

ClinVar
Risk	rs72667037(T;T)
Alt	rs72667037(T;T)
Reference	Rs72667037(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type 1
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type 1, mild
Reversed	1
HGVS	NC_000017.10:g.48275128C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018861.28,