rs121912903

Orientation

plus

Stabilized

plus

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

Make rs121912903(G;T)

Make rs121912903(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94417796

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912903
dbSNP (classic)	rs121912903
ClinGen	rs121912903
ebi	rs121912903
HLI	rs121912903
Exac	rs121912903
Gnomad	rs121912903
Varsome	rs121912903
LitVar	rs121912903
Map	rs121912903
PheGenI	rs121912903
Biobank	rs121912903
1000 genomes	rs121912903
hgdp	rs121912903
ensembl	rs121912903
geneview	rs121912903
scholar	rs121912903
google	rs121912903
pharmgkb	rs121912903
gwascentral	rs121912903
openSNP	rs121912903
23andMe	rs121912903
SNPshot	rs121912903
SNPdbe	rs121912903
MSV3d	rs121912903
GWAS Ctlg	rs121912903

Max Magnitude

0

OMIM	120160
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121912903(T;T)
Alt	rs121912903(T;T)
Reference	Rs121912903(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta with normal sclerae
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta with normal sclerae, dominant form
Reversed	0
HGVS	NC_000007.13:g.94047108G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018783.28,