rs1057516053

Orientation

plus

Stabilized

plus

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

Make rs1057516053(A;A)

Make rs1057516053(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

94413129

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs1057516053
dbSNP (classic)	rs1057516053
ClinGen	rs1057516053
ebi	rs1057516053
HLI	rs1057516053
Exac	rs1057516053
Gnomad	rs1057516053
Varsome	rs1057516053
LitVar	rs1057516053
Map	rs1057516053
PheGenI	rs1057516053
Biobank	rs1057516053
1000 genomes	rs1057516053
hgdp	rs1057516053
ensembl	rs1057516053
geneview	rs1057516053
scholar	rs1057516053
google	rs1057516053
pharmgkb	rs1057516053
gwascentral	rs1057516053
openSNP	rs1057516053
23andMe	rs1057516053
SNPshot	rs1057516053
SNPdbe	rs1057516053
MSV3d	rs1057516053
GWAS Ctlg	rs1057516053

Max Magnitude

0

ClinVar
Risk	rs1057516053(A;A)
Alt	rs1057516053(A;A)
Reference	Rs1057516053(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta type III
Reversed	0
HGVS	NC_000007.13:g.94042441G>A
CLNSRC
CLNACC	RCV000408644.1,