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rs193922167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922167(-;-)
Make rs193922167(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position94427643
GeneCHRNA1, COL1A2
is asnp
is mentioned by
dbSNPrs193922167
ebirs193922167
HLIrs193922167
Exacrs193922167
Varsomers193922167
Maprs193922167
PheGenIrs193922167
hapmaprs193922167
1000 genomesrs193922167
hgdprs193922167
ensemblrs193922167
gopubmedrs193922167
geneviewrs193922167
scholarrs193922167
googlers193922167
pharmgkbrs193922167
gwascentralrs193922167
openSNPrs193922167
23andMers193922167
23andMe allrs193922167
SNP Nexus

SNPshotrs193922167
SNPdbers193922167
MSV3drs193922167
GWAS Ctlgrs193922167
Max Magnitude0
ClinVar
Risk rs193922167(;)
Alt rs193922167(;)
Reference rs193922167(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94056955delC
CLNSRC ClinVar LabCorp
CLNACC RCV000029603.1,