rs121912902

Orientation

plus

Stabilized

plus

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

Make rs121912902(A;A)

Make rs121912902(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94424363

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912902
dbSNP (classic)	rs121912902
ClinGen	rs121912902
ebi	rs121912902
HLI	rs121912902
Exac	rs121912902
Gnomad	rs121912902
Varsome	rs121912902
LitVar	rs121912902
Map	rs121912902
PheGenI	rs121912902
Biobank	rs121912902
1000 genomes	rs121912902
hgdp	rs121912902
ensembl	rs121912902
geneview	rs121912902
scholar	rs121912902
google	rs121912902
pharmgkb	rs121912902
gwascentral	rs121912902
openSNP	rs121912902
23andMe	rs121912902
SNPshot	rs121912902
SNPdbe	rs121912902
MSV3d	rs121912902
GWAS Ctlg	rs121912902

Max Magnitude

0

OMIM	120160
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121912902(A;A)
Alt	rs121912902(A;A)
Reference	Rs121912902(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000007.13:g.94053675G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018782.24,