rs72656314

Orientation

minus

Stabilized

minus

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

Make rs72656314(C;T)

Make rs72656314(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50187486

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72656314
dbSNP (classic)	rs72656314
ClinGen	rs72656314
ebi	rs72656314
HLI	rs72656314
Exac	rs72656314
Gnomad	rs72656314
Varsome	rs72656314
LitVar	rs72656314
Map	rs72656314
PheGenI	rs72656314
Biobank	rs72656314
1000 genomes	rs72656314
hgdp	rs72656314
ensembl	rs72656314
geneview	rs72656314
scholar	rs72656314
google	rs72656314
pharmgkb	rs72656314
gwascentral	rs72656314
openSNP	rs72656314
23andMe	rs72656314
SNPshot	rs72656314
SNPdbe	rs72656314
MSV3d	rs72656314
GWAS Ctlg	rs72656314

Max Magnitude

0

OMIM	120150
Desc
Variant	0055
Related	also

ClinVar
Risk	rs72656314(A;A) rs72656314(T;T)
Alt	rs72656314(A;A) rs72656314(T;T)
Reference	Rs72656314(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48264847G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018878.23,