rs121912904

Orientation

plus

Stabilized

plus

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

Make rs121912904(A;A)

Make rs121912904(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94422967

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912904
dbSNP (classic)	rs121912904
ClinGen	rs121912904
ebi	rs121912904
HLI	rs121912904
Exac	rs121912904
Gnomad	rs121912904
Varsome	rs121912904
LitVar	rs121912904
Map	rs121912904
PheGenI	rs121912904
Biobank	rs121912904
1000 genomes	rs121912904
hgdp	rs121912904
ensembl	rs121912904
geneview	rs121912904
scholar	rs121912904
google	rs121912904
pharmgkb	rs121912904
gwascentral	rs121912904
openSNP	rs121912904
23andMe	rs121912904
SNPshot	rs121912904
SNPdbe	rs121912904
MSV3d	rs121912904
GWAS Ctlg	rs121912904

Max Magnitude

0

OMIM	120160
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121912904(A;A)
Alt	rs121912904(A;A)
Reference	Rs121912904(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000007.13:g.94052279G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018786.26,