rs121912911

Orientation

plus

Stabilized

plus

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

Make rs121912911(C;C)

Make rs121912911(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94426442

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912911
dbSNP (classic)	rs121912911
ClinGen	rs121912911
ebi	rs121912911
HLI	rs121912911
Exac	rs121912911
Gnomad	rs121912911
Varsome	rs121912911
LitVar	rs121912911
Map	rs121912911
PheGenI	rs121912911
Biobank	rs121912911
1000 genomes	rs121912911
hgdp	rs121912911
ensembl	rs121912911
geneview	rs121912911
scholar	rs121912911
google	rs121912911
pharmgkb	rs121912911
gwascentral	rs121912911
openSNP	rs121912911
23andMe	rs121912911
SNPshot	rs121912911
SNPdbe	rs121912911
MSV3d	rs121912911
GWAS Ctlg	rs121912911

Max Magnitude

0

OMIM	120160
Desc
Variant	0037
Related	also

ClinVar
Risk	rs121912911(C;C)
Alt	rs121912911(C;C)
Reference	Rs121912911(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.94055754G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018806.25,