rs72653143

Orientation

minus

Stabilized

minus

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

Make rs72653143(G;T)

Make rs72653143(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50189867

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72653143
dbSNP (classic)	rs72653143
ClinGen	rs72653143
ebi	rs72653143
HLI	rs72653143
Exac	rs72653143
Gnomad	rs72653143
Varsome	rs72653143
LitVar	rs72653143
Map	rs72653143
PheGenI	rs72653143
Biobank	rs72653143
1000 genomes	rs72653143
hgdp	rs72653143
ensembl	rs72653143
geneview	rs72653143
scholar	rs72653143
google	rs72653143
pharmgkb	rs72653143
gwascentral	rs72653143
openSNP	rs72653143
23andMe	rs72653143
SNPshot	rs72653143
SNPdbe	rs72653143
MSV3d	rs72653143
GWAS Ctlg	rs72653143

Max Magnitude

0

OMIM	120150
Desc
Variant	0009
Related	also

ClinVar
Risk	rs72653143(T;T)
Alt	rs72653143(T;T)
Reference	Rs72653143(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48267228C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018833.27,