rs72645331

Orientation

minus

Stabilized

minus

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

Make rs72645331(G;T)

Make rs72645331(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50196661

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72645331
dbSNP (classic)	rs72645331
ClinGen	rs72645331
ebi	rs72645331
HLI	rs72645331
Exac	rs72645331
Gnomad	rs72645331
Varsome	rs72645331
LitVar	rs72645331
Map	rs72645331
PheGenI	rs72645331
Biobank	rs72645331
1000 genomes	rs72645331
hgdp	rs72645331
ensembl	rs72645331
geneview	rs72645331
scholar	rs72645331
google	rs72645331
pharmgkb	rs72645331
gwascentral	rs72645331
openSNP	rs72645331
23andMe	rs72645331
SNPshot	rs72645331
SNPdbe	rs72645331
MSV3d	rs72645331
GWAS Ctlg	rs72645331

Max Magnitude

0

OMIM	120150
Desc
Variant	0002
Related	also

ClinVar
Risk	rs72645331(T;T)
Alt	rs72645331(T;T)
Reference	Rs72645331(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48274022C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018826.27,