rs72658200

Orientation

plus

Stabilized

plus

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

Make rs72658200(A;A)

Make rs72658200(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94424345

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs72658200
dbSNP (classic)	rs72658200
ClinGen	rs72658200
ebi	rs72658200
HLI	rs72658200
Exac	rs72658200
Gnomad	rs72658200
Varsome	rs72658200
LitVar	rs72658200
Map	rs72658200
PheGenI	rs72658200
Biobank	rs72658200
1000 genomes	rs72658200
hgdp	rs72658200
ensembl	rs72658200
geneview	rs72658200
scholar	rs72658200
google	rs72658200
pharmgkb	rs72658200
gwascentral	rs72658200
openSNP	rs72658200
23andMe	rs72658200
SNPshot	rs72658200
SNPdbe	rs72658200
MSV3d	rs72658200
GWAS Ctlg	rs72658200

Max Magnitude

0

OMIM	120160
Desc
Variant	0033
Related	also

ClinVar
Risk	rs72658200(A;A)
Alt	rs72658200(A;A)
Reference	Rs72658200(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.94053657G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018802.29,