rs72651657

Orientation

minus

Stabilized

minus

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

Make rs72651657(G;T)

Make rs72651657(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50190869

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72651657
dbSNP (classic)	rs72651657
ClinGen	rs72651657
ebi	rs72651657
HLI	rs72651657
Exac	rs72651657
Gnomad	rs72651657
Varsome	rs72651657
LitVar	rs72651657
Map	rs72651657
PheGenI	rs72651657
Biobank	rs72651657
1000 genomes	rs72651657
hgdp	rs72651657
ensembl	rs72651657
geneview	rs72651657
scholar	rs72651657
google	rs72651657
pharmgkb	rs72651657
gwascentral	rs72651657
openSNP	rs72651657
23andMe	rs72651657
SNPshot	rs72651657
SNPdbe	rs72651657
MSV3d	rs72651657
GWAS Ctlg	rs72651657

Max Magnitude

0

OMIM	120150
Desc
Variant	0056
Related	also

ClinVar
Risk	rs72651657(T;T)
Alt	rs72651657(T;T)
Reference	Rs72651657(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48268230C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018879.25,