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rs193922165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922165(A;A)
Make rs193922165(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94425655
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs193922165
dbSNP (classic)rs193922165
ClinGenrs193922165
ebirs193922165
HLIrs193922165
Exacrs193922165
Gnomadrs193922165
Varsomers193922165
LitVarrs193922165
Maprs193922165
PheGenIrs193922165
Biobankrs193922165
1000 genomesrs193922165
hgdprs193922165
ensemblrs193922165
geneviewrs193922165
scholarrs193922165
googlers193922165
pharmgkbrs193922165
gwascentralrs193922165
openSNPrs193922165
23andMers193922165
SNPshotrs193922165
SNPdbers193922165
MSV3drs193922165
GWAS Ctlgrs193922165
Max Magnitude0
ClinVar
Risk rs193922165(A;A)
Alt rs193922165(A;A)
Reference Rs193922165(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94054967G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029600.1,