rs72658154

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	7.7	Osteogenesis imperfecta type II
(G;G)	0	common in clinvar

Make rs72658154(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94418518

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs72658154
dbSNP (classic)	rs72658154
ClinGen	rs72658154
ebi	rs72658154
HLI	rs72658154
Exac	rs72658154
Gnomad	rs72658154
Varsome	rs72658154
LitVar	rs72658154
Map	rs72658154
PheGenI	rs72658154
Biobank	rs72658154
1000 genomes	rs72658154
hgdp	rs72658154
ensembl	rs72658154
geneview	rs72658154
scholar	rs72658154
google	rs72658154
pharmgkb	rs72658154
gwascentral	rs72658154
openSNP	rs72658154
23andMe	rs72658154
SNPshot	rs72658154
SNPdbe	rs72658154
MSV3d	rs72658154
GWAS Ctlg	rs72658154

Max Magnitude

7.7

aka c.1991G>A (p.Gly664Asp)

23andMe name: i5041058

ClinVar
Risk	rs72658154(A;A)
Alt	rs72658154(A;A)
Reference	Rs72658154(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta
Reversed	0
HGVS	NC_000007.13:g.94047830G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029595.1,

[PMID 11317364] Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.