rs121912901

Orientation

plus

Stabilized

plus

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

Make rs121912901(A;A)

Make rs121912901(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94413922

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs121912901
dbSNP (classic)	rs121912901
ClinGen	rs121912901
ebi	rs121912901
HLI	rs121912901
Exac	rs121912901
Gnomad	rs121912901
Varsome	rs121912901
LitVar	rs121912901
Map	rs121912901
PheGenI	rs121912901
Biobank	rs121912901
1000 genomes	rs121912901
hgdp	rs121912901
ensembl	rs121912901
geneview	rs121912901
scholar	rs121912901
google	rs121912901
pharmgkb	rs121912901
gwascentral	rs121912901
openSNP	rs121912901
23andMe	rs121912901
SNPshot	rs121912901
SNPdbe	rs121912901
MSV3d	rs121912901
GWAS Ctlg	rs121912901

Max Magnitude

0

OMIM	120160
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121912901(A;A)
Alt	rs121912901(A;A)
Reference	Rs121912901(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000007.13:g.94043234G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018781.27,