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rs193922226

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 5.5 Marfan syndrome mutation
(G;G) 0 common in clinvar


Make rs193922226(-;-)
ReferenceGRCh38 38.1/141
Chromosome15
Position48432901
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922226
dbSNP (classic)rs193922226
ClinGenrs193922226
ebirs193922226
HLIrs193922226
Exacrs193922226
Gnomadrs193922226
Varsomers193922226
LitVarrs193922226
Maprs193922226
PheGenIrs193922226
Biobankrs193922226
1000 genomesrs193922226
hgdprs193922226
ensemblrs193922226
geneviewrs193922226
scholarrs193922226
googlers193922226
pharmgkbrs193922226
gwascentralrs193922226
openSNPrs193922226
23andMers193922226
SNPshotrs193922226
SNPdbers193922226
MSV3drs193922226
GWAS Ctlgrs193922226
Max Magnitude5.5
ClinVar
Risk rs193922226(-;-)
Alt rs193922226(-;-)
Reference Rs193922226(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48725098delC
CLNSRC ClinVar LabCorp
CLNACC RCV000029767.1,