rs1057516036

Orientation

plus

Stabilized

plus

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

Make rs1057516036(A;A)

Make rs1057516036(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

94423065

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs1057516036
dbSNP (classic)	rs1057516036
ClinGen	rs1057516036
ebi	rs1057516036
HLI	rs1057516036
Exac	rs1057516036
Gnomad	rs1057516036
Varsome	rs1057516036
LitVar	rs1057516036
Map	rs1057516036
PheGenI	rs1057516036
Biobank	rs1057516036
1000 genomes	rs1057516036
hgdp	rs1057516036
ensembl	rs1057516036
geneview	rs1057516036
scholar	rs1057516036
google	rs1057516036
pharmgkb	rs1057516036
gwascentral	rs1057516036
openSNP	rs1057516036
23andMe	rs1057516036
SNPshot	rs1057516036
SNPdbe	rs1057516036
MSV3d	rs1057516036
GWAS Ctlg	rs1057516036

Max Magnitude

0

ClinVar
Risk	rs1057516036(A;A)
Alt	rs1057516036(A;A)
Reference	Rs1057516036(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	0
HGVS	NC_000007.13:g.94052377G>A
CLNSRC
CLNACC	RCV000408630.1,