Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922152(A;G)
Make rs193922152(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50189208
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922152
ebirs193922152
HLIrs193922152
Exacrs193922152
Varsomers193922152
Maprs193922152
PheGenIrs193922152
hapmaprs193922152
1000 genomesrs193922152
hgdprs193922152
ensemblrs193922152
gopubmedrs193922152
geneviewrs193922152
scholarrs193922152
googlers193922152
pharmgkbrs193922152
gwascentralrs193922152
openSNPrs193922152
23andMers193922152
23andMe allrs193922152
SNP Nexus

SNPshotrs193922152
SNPdbers193922152
MSV3drs193922152
GWAS Ctlgrs193922152
Max Magnitude0
ClinVar
Risk rs193922152(G;G)
Alt rs193922152(G;G)
Reference rs193922152(A;A)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48266569T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029572.1,