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rs193922162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922162(A;A)
Make rs193922162(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94417733
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs193922162
dbSNP (classic)rs193922162
ClinGenrs193922162
ebirs193922162
HLIrs193922162
Exacrs193922162
Gnomadrs193922162
Varsomers193922162
LitVarrs193922162
Maprs193922162
PheGenIrs193922162
Biobankrs193922162
1000 genomesrs193922162
hgdprs193922162
ensemblrs193922162
geneviewrs193922162
scholarrs193922162
googlers193922162
pharmgkbrs193922162
gwascentralrs193922162
openSNPrs193922162
23andMers193922162
SNPshotrs193922162
SNPdbers193922162
MSV3drs193922162
GWAS Ctlgrs193922162
Max Magnitude0
ClinVar
Risk rs193922162(A;A)
Alt rs193922162(A;A)
Reference Rs193922162(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94047045G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029594.1,