rs72656353

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0
(T;T)	0	common in clinvar

Make rs72656353(C;C)

Make rs72656353(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50185506

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72656353
dbSNP (classic)	rs72656353
ClinGen	rs72656353
ebi	rs72656353
HLI	rs72656353
Exac	rs72656353
Gnomad	rs72656353
Varsome	rs72656353
LitVar	rs72656353
Map	rs72656353
PheGenI	rs72656353
Biobank	rs72656353
1000 genomes	rs72656353
hgdp	rs72656353
ensembl	rs72656353
geneview	rs72656353
scholar	rs72656353
google	rs72656353
pharmgkb	rs72656353
gwascentral	rs72656353
openSNP	rs72656353
23andMe	rs72656353
SNPshot	rs72656353
SNPdbe	rs72656353
MSV3d	rs72656353
GWAS Ctlg	rs72656353

Max Magnitude

0

ClinVar
Risk	rs72656353(C;C)
Alt	rs72656353(C;C)
Reference	Rs72656353(T;T)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type III
Reversed	1
HGVS	NC_000017.10:g.48262867A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018873.27,