rs72653166

Orientation

minus

Stabilized

minus

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

Make rs72653166(G;T)

Make rs72653166(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50189009

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72653166
dbSNP (classic)	rs72653166
ClinGen	rs72653166
ebi	rs72653166
HLI	rs72653166
Exac	rs72653166
Gnomad	rs72653166
Varsome	rs72653166
LitVar	rs72653166
Map	rs72653166
PheGenI	rs72653166
Biobank	rs72653166
1000 genomes	rs72653166
hgdp	rs72653166
ensembl	rs72653166
geneview	rs72653166
scholar	rs72653166
google	rs72653166
pharmgkb	rs72653166
gwascentral	rs72653166
openSNP	rs72653166
23andMe	rs72653166
SNPshot	rs72653166
SNPdbe	rs72653166
MSV3d	rs72653166
GWAS Ctlg	rs72653166

Max Magnitude

0

OMIM	120150
Desc
Variant	0041
Related	also

ClinVar
Risk	rs72653166(T;T)
Alt	rs72653166(T;T)
Reference	Rs72653166(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48266370C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018864.27,