Have questions? Visit https://www.reddit.com/r/SNPedia

rs67394386

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67394386(A;A)
Make rs67394386(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50188131
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs67394386
dbSNP (classic)rs67394386
ClinGenrs67394386
ebirs67394386
HLIrs67394386
Exacrs67394386
Gnomadrs67394386
Varsomers67394386
LitVarrs67394386
Maprs67394386
PheGenIrs67394386
Biobankrs67394386
1000 genomesrs67394386
hgdprs67394386
ensemblrs67394386
geneviewrs67394386
scholarrs67394386
googlers67394386
pharmgkbrs67394386
gwascentralrs67394386
openSNPrs67394386
23andMers67394386
SNPshotrs67394386
SNPdbers67394386
MSV3drs67394386
GWAS Ctlgrs67394386
Max Magnitude0
ClinVar
Risk rs67394386(A;A) rs67394386(T;T)
Alt rs67394386(A;A) rs67394386(T;T)
Reference Rs67394386(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type III
Reversed 1
HGVS NC_000017.10:g.48265492C>T
CLNSRC
CLNACC RCV000490696.1,