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rs193922190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922190(A;A)
Make rs193922190(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48495500
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922190
ebirs193922190
HLIrs193922190
Exacrs193922190
Varsomers193922190
Maprs193922190
PheGenIrs193922190
hapmaprs193922190
1000 genomesrs193922190
hgdprs193922190
ensemblrs193922190
gopubmedrs193922190
geneviewrs193922190
scholarrs193922190
googlers193922190
pharmgkbrs193922190
gwascentralrs193922190
openSNPrs193922190
23andMers193922190
23andMe allrs193922190
SNP Nexus

SNPshotrs193922190
SNPdbers193922190
MSV3drs193922190
GWAS Ctlgrs193922190
Max Magnitude0
ClinVar
Risk rs193922190(A;A)
Alt rs193922190(A;A)
Reference rs193922190(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48787697A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029712.1,