rs121912907

Orientation

plus

Stabilized

plus

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

Make rs121912907(G;T)

Make rs121912907(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94415263

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912907
dbSNP (classic)	rs121912907
ClinGen	rs121912907
ebi	rs121912907
HLI	rs121912907
Exac	rs121912907
Gnomad	rs121912907
Varsome	rs121912907
LitVar	rs121912907
Map	rs121912907
PheGenI	rs121912907
Biobank	rs121912907
1000 genomes	rs121912907
hgdp	rs121912907
ensembl	rs121912907
geneview	rs121912907
scholar	rs121912907
google	rs121912907
pharmgkb	rs121912907
gwascentral	rs121912907
openSNP	rs121912907
23andMe	rs121912907
SNPshot	rs121912907
SNPdbe	rs121912907
MSV3d	rs121912907
GWAS Ctlg	rs121912907

Max Magnitude

0

OMIM	120160
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121912907(T;T)
Alt	rs121912907(T;T)
Reference	Rs121912907(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta with normal sclerae Osteogenesis imperfecta type III
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type III
Reversed	0
HGVS	NC_000007.13:g.94044575G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018793.22, RCV000018794.30,