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rs193922186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922186(A;A)
Make rs193922186(A;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48503843
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922186
ebirs193922186
HLIrs193922186
Exacrs193922186
Varsomers193922186
Maprs193922186
PheGenIrs193922186
hapmaprs193922186
1000 genomesrs193922186
hgdprs193922186
ensemblrs193922186
gopubmedrs193922186
geneviewrs193922186
scholarrs193922186
googlers193922186
pharmgkbrs193922186
gwascentralrs193922186
openSNPrs193922186
23andMers193922186
23andMe allrs193922186
SNP Nexus

SNPshotrs193922186
SNPdbers193922186
MSV3drs193922186
GWAS Ctlgrs193922186
Max Magnitude0
ClinVar
Risk rs193922186(A;A)
Alt rs193922186(A;A)
Reference rs193922186(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48796040G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029705.1,