rs72658176

Orientation

plus

Stabilized

plus

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

Make rs72658176(A;A)

Make rs72658176(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94420604

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs72658176
dbSNP (classic)	rs72658176
ClinGen	rs72658176
ebi	rs72658176
HLI	rs72658176
Exac	rs72658176
Gnomad	rs72658176
Varsome	rs72658176
LitVar	rs72658176
Map	rs72658176
PheGenI	rs72658176
Biobank	rs72658176
1000 genomes	rs72658176
hgdp	rs72658176
ensembl	rs72658176
geneview	rs72658176
scholar	rs72658176
google	rs72658176
pharmgkb	rs72658176
gwascentral	rs72658176
openSNP	rs72658176
23andMe	rs72658176
SNPshot	rs72658176
SNPdbe	rs72658176
MSV3d	rs72658176
GWAS Ctlg	rs72658176

Max Magnitude

0

OMIM	120160
Desc
Variant	0039
Related	also

ClinVar
Risk	rs72658176(A;A)
Alt	rs72658176(A;A)
Reference	Rs72658176(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta type III
Reversed	0
HGVS	NC_000007.13:g.94049916G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018808.28,