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rs1057516053

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516053(A;A)
Make rs1057516053(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position94413129
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs1057516053
dbSNP (old)rs1057516053
ClinGenrs1057516053
ebirs1057516053
HLIrs1057516053
Exacrs1057516053
Gnomadrs1057516053
Varsomers1057516053
Maprs1057516053
PheGenIrs1057516053
Biobankrs1057516053
1000 genomesrs1057516053
hgdprs1057516053
ensemblrs1057516053
gopubmedrs1057516053
geneviewrs1057516053
scholarrs1057516053
googlers1057516053
pharmgkbrs1057516053
gwascentralrs1057516053
openSNPrs1057516053
23andMers1057516053
23andMe allrs1057516053
SNPshotrs1057516053
SNPdbers1057516053
MSV3drs1057516053
GWAS Ctlgrs1057516053
Max Magnitude0
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,