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rs193922155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922155(A;G)
Make rs193922155(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50199329
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922155
ebirs193922155
HLIrs193922155
Exacrs193922155
Varsomers193922155
Maprs193922155
PheGenIrs193922155
hapmaprs193922155
1000 genomesrs193922155
hgdprs193922155
ensemblrs193922155
gopubmedrs193922155
geneviewrs193922155
scholarrs193922155
googlers193922155
pharmgkbrs193922155
gwascentralrs193922155
openSNPrs193922155
23andMers193922155
23andMe allrs193922155
SNP Nexus

SNPshotrs193922155
SNPdbers193922155
MSV3drs193922155
GWAS Ctlgrs193922155
Max Magnitude0
ClinVar
Risk rs193922155(G;G)
Alt rs193922155(G;G)
Reference rs193922155(A;A)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48276690T>C
CLNSRC ClinVar
CLNACC RCV000029576.1,