rs72659345

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAAT;AAAT)	0	common in clinvar
(ATAA;ATAA)	0	common in clinvar
(I;I)	0

Make rs72659345(-;-)

Make rs72659345(-;ATAA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94430293

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs72659345
dbSNP (classic)	rs72659345
ClinGen	rs72659345
ebi	rs72659345
HLI	rs72659345
Exac	rs72659345
Gnomad	rs72659345
Varsome	rs72659345
LitVar	rs72659345
Map	rs72659345
PheGenI	rs72659345
Biobank	rs72659345
1000 genomes	rs72659345
hgdp	rs72659345
ensembl	rs72659345
geneview	rs72659345
scholar	rs72659345
google	rs72659345
pharmgkb	rs72659345
gwascentral	rs72659345
openSNP	rs72659345
23andMe	rs72659345
SNPshot	rs72659345
SNPdbe	rs72659345
MSV3d	rs72659345
GWAS Ctlg	rs72659345

Max Magnitude

0

ClinVar
Risk	rs72659345(-;-)
Alt	rs72659345(-;-)
Reference	Rs72659345(AAAT;AAAT)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta type III
Reversed	0
HGVS	NC_000007.13:g.94059605_94059608delATAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018776.23,