rs72651653

Orientation

minus

Stabilized

minus

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

Make rs72651653(G;T)

Make rs72651653(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50191390

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72651653
dbSNP (classic)	rs72651653
ClinGen	rs72651653
ebi	rs72651653
HLI	rs72651653
Exac	rs72651653
Gnomad	rs72651653
Varsome	rs72651653
LitVar	rs72651653
Map	rs72651653
PheGenI	rs72651653
Biobank	rs72651653
1000 genomes	rs72651653
hgdp	rs72651653
ensembl	rs72651653
geneview	rs72651653
scholar	rs72651653
google	rs72651653
pharmgkb	rs72651653
gwascentral	rs72651653
openSNP	rs72651653
23andMe	rs72651653
SNPshot	rs72651653
SNPdbe	rs72651653
MSV3d	rs72651653
GWAS Ctlg	rs72651653

Max Magnitude

0

OMIM	120150
Desc
Variant	0045
Related	also

ClinVar
Risk	rs72651653(T;T)
Alt	rs72651653(T;T)
Reference	Rs72651653(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48268751C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018868.27,