rs121912909

Orientation

plus

Stabilized

plus

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

Make rs121912909(A;A)

Make rs121912909(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94415245

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912909
dbSNP (classic)	rs121912909
ClinGen	rs121912909
ebi	rs121912909
HLI	rs121912909
Exac	rs121912909
Gnomad	rs121912909
Varsome	rs121912909
LitVar	rs121912909
Map	rs121912909
PheGenI	rs121912909
Biobank	rs121912909
1000 genomes	rs121912909
hgdp	rs121912909
ensembl	rs121912909
geneview	rs121912909
scholar	rs121912909
google	rs121912909
pharmgkb	rs121912909
gwascentral	rs121912909
openSNP	rs121912909
23andMe	rs121912909
SNPshot	rs121912909
SNPdbe	rs121912909
MSV3d	rs121912909
GWAS Ctlg	rs121912909

Max Magnitude

0

OMIM	120160
Desc
Variant	0029
Related	also

ClinVar
Risk	rs121912909(A;A)
Alt	rs121912909(A;A)
Reference	Rs121912909(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000007.13:g.94044557G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018798.25,