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rs193922168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922168(C;C)
Make rs193922168(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94427714
GeneCHRNA1, COL1A2
is asnp
is mentioned by
dbSNPrs193922168
ebirs193922168
HLIrs193922168
Exacrs193922168
Varsomers193922168
Maprs193922168
PheGenIrs193922168
hapmaprs193922168
1000 genomesrs193922168
hgdprs193922168
ensemblrs193922168
gopubmedrs193922168
geneviewrs193922168
scholarrs193922168
googlers193922168
pharmgkbrs193922168
gwascentralrs193922168
openSNPrs193922168
23andMers193922168
23andMe allrs193922168
SNP Nexus

SNPshotrs193922168
SNPdbers193922168
MSV3drs193922168
GWAS Ctlgrs193922168
Max Magnitude0
ClinVar
Risk rs193922168(C;C)
Alt rs193922168(C;C)
Reference rs193922168(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94057026G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029605.1,