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rs193922194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922194(-;-)
Make rs193922194(-;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48494250
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922194
ebirs193922194
HLIrs193922194
Exacrs193922194
Varsomers193922194
Maprs193922194
PheGenIrs193922194
hapmaprs193922194
1000 genomesrs193922194
hgdprs193922194
ensemblrs193922194
gopubmedrs193922194
geneviewrs193922194
scholarrs193922194
googlers193922194
pharmgkbrs193922194
gwascentralrs193922194
openSNPrs193922194
23andMers193922194
23andMe allrs193922194
SNP Nexus

SNPshotrs193922194
SNPdbers193922194
MSV3drs193922194
GWAS Ctlgrs193922194
Max Magnitude0
ClinVar
Risk rs193922194(;)
Alt rs193922194(;)
Reference rs193922194(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48786447delG
CLNSRC ClinVar LabCorp
CLNACC RCV000029717.1,