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rs193922166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922166(-;-)
Make rs193922166(-;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position94427006
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs193922166
dbSNP (classic)rs193922166
ClinGenrs193922166
ebirs193922166
HLIrs193922166
Exacrs193922166
Gnomadrs193922166
Varsomers193922166
LitVarrs193922166
Maprs193922166
PheGenIrs193922166
Biobankrs193922166
1000 genomesrs193922166
hgdprs193922166
ensemblrs193922166
geneviewrs193922166
scholarrs193922166
googlers193922166
pharmgkbrs193922166
gwascentralrs193922166
openSNPrs193922166
23andMers193922166
SNPshotrs193922166
SNPdbers193922166
MSV3drs193922166
GWAS Ctlgrs193922166
Max Magnitude0
ClinVar
Risk rs193922166(-;-)
Alt rs193922166(-;-)
Reference Rs193922166(A;A)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94056318delA
CLNSRC ClinVar
CLNACC RCV000029602.1,