rs72656352

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AATTC;AATTC)	0	common in clinvar
(I;I)	0

Make rs72656352(-;-)

Make rs72656352(-;AATTC)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50185535

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72656352
dbSNP (classic)	rs72656352
ClinGen	rs72656352
ebi	rs72656352
HLI	rs72656352
Exac	rs72656352
Gnomad	rs72656352
Varsome	rs72656352
LitVar	rs72656352
Map	rs72656352
PheGenI	rs72656352
Biobank	rs72656352
1000 genomes	rs72656352
hgdp	rs72656352
ensembl	rs72656352
geneview	rs72656352
scholar	rs72656352
google	rs72656352
pharmgkb	rs72656352
gwascentral	rs72656352
openSNP	rs72656352
23andMe	rs72656352
SNPshot	rs72656352
SNPdbe	rs72656352
MSV3d	rs72656352
GWAS Ctlg	rs72656352

Max Magnitude

0

ClinVar
Risk	rs72656352(-;-)
Alt	rs72656352(-;-)
Reference	Rs72656352(AATTC;AATTC)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48262896_48262900delGAATT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018848.27,