rs121912908

Orientation

plus

Stabilized

plus

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

Make rs121912908(C;C)

Make rs121912908(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94420233

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912908
dbSNP (classic)	rs121912908
ClinGen	rs121912908
ebi	rs121912908
HLI	rs121912908
Exac	rs121912908
Gnomad	rs121912908
Varsome	rs121912908
LitVar	rs121912908
Map	rs121912908
PheGenI	rs121912908
Biobank	rs121912908
1000 genomes	rs121912908
hgdp	rs121912908
ensembl	rs121912908
geneview	rs121912908
scholar	rs121912908
google	rs121912908
pharmgkb	rs121912908
gwascentral	rs121912908
openSNP	rs121912908
23andMe	rs121912908
SNPshot	rs121912908
SNPdbe	rs121912908
MSV3d	rs121912908
GWAS Ctlg	rs121912908

Max Magnitude

0

OMIM	120160
Desc
Variant	0025
Related	also

ClinVar
Risk	rs121912908(C;C)
Alt	rs121912908(C;C)
Reference	Rs121912908(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000007.13:g.94049545G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018795.28,