rs121912910

Orientation

plus

Stabilized

plus

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

Make rs121912910(A;A)

Make rs121912910(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94413083

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912910
dbSNP (classic)	rs121912910
ClinGen	rs121912910
ebi	rs121912910
HLI	rs121912910
Exac	rs121912910
Gnomad	rs121912910
Varsome	rs121912910
LitVar	rs121912910
Map	rs121912910
PheGenI	rs121912910
Biobank	rs121912910
1000 genomes	rs121912910
hgdp	rs121912910
ensembl	rs121912910
geneview	rs121912910
scholar	rs121912910
google	rs121912910
pharmgkb	rs121912910
gwascentral	rs121912910
openSNP	rs121912910
23andMe	rs121912910
SNPshot	rs121912910
SNPdbe	rs121912910
MSV3d	rs121912910
GWAS Ctlg	rs121912910

Max Magnitude

0

OMIM	120160
Desc
Variant	0034
Related	also

ClinVar
Risk	rs121912910(A;A)
Alt	rs121912910(A;A)
Reference	Rs121912910(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000007.13:g.94042395G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018803.28,