rs121912912

Orientation

plus

Stabilized

plus

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

Make rs121912912(C;C)

Make rs121912912(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94410466

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912912
dbSNP (classic)	rs121912912
ClinGen	rs121912912
ebi	rs121912912
HLI	rs121912912
Exac	rs121912912
Gnomad	rs121912912
Varsome	rs121912912
LitVar	rs121912912
Map	rs121912912
PheGenI	rs121912912
Biobank	rs121912912
1000 genomes	rs121912912
hgdp	rs121912912
ensembl	rs121912912
geneview	rs121912912
scholar	rs121912912
google	rs121912912
pharmgkb	rs121912912
gwascentral	rs121912912
openSNP	rs121912912
23andMe	rs121912912
SNPshot	rs121912912
SNPdbe	rs121912912
MSV3d	rs121912912
GWAS Ctlg	rs121912912

Max Magnitude

0

OMIM	120160
Desc
Variant	0050
Related	also

ClinVar
Risk	rs121912912(A;A) rs121912912(C;C)
Alt	rs121912912(A;A) rs121912912(C;C)
Reference	Rs121912912(G;G)
Significance	Pathogenic
Disease	not provided Osteogenesis imperfecta with normal sclerae
Variation	info
Gene	COL1A2
CLNDBN	not provided Osteogenesis imperfecta with normal sclerae, dominant form
Reversed	0
HGVS	NC_000007.13:g.94039778G>A; NC_000007.13:g.94039778G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000489404.1, RCV000018819.29,