rs121912900

Orientation

plus

Stabilized

plus

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

Make rs121912900(A;A)

Make rs121912900(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94425163

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912900
dbSNP (classic)	rs121912900
ClinGen	rs121912900
ebi	rs121912900
HLI	rs121912900
Exac	rs121912900
Gnomad	rs121912900
Varsome	rs121912900
LitVar	rs121912900
Map	rs121912900
PheGenI	rs121912900
Biobank	rs121912900
1000 genomes	rs121912900
hgdp	rs121912900
ensembl	rs121912900
geneview	rs121912900
scholar	rs121912900
google	rs121912900
pharmgkb	rs121912900
gwascentral	rs121912900
openSNP	rs121912900
23andMe	rs121912900
SNPshot	rs121912900
SNPdbe	rs121912900
MSV3d	rs121912900
GWAS Ctlg	rs121912900

Max Magnitude

0

OMIM	120160
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121912900(A;A)
Alt	rs121912900(A;A)
Reference	Rs121912900(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000007.13:g.94054475G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018779.28,