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rs193922205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922205(A;A)
Make rs193922205(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48468527
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922205
ebirs193922205
HLIrs193922205
Exacrs193922205
Varsomers193922205
Maprs193922205
PheGenIrs193922205
hapmaprs193922205
1000 genomesrs193922205
hgdprs193922205
ensemblrs193922205
gopubmedrs193922205
geneviewrs193922205
scholarrs193922205
googlers193922205
pharmgkbrs193922205
gwascentralrs193922205
openSNPrs193922205
23andMers193922205
23andMe allrs193922205
SNP Nexus

SNPshotrs193922205
SNPdbers193922205
MSV3drs193922205
GWAS Ctlgrs193922205
Max Magnitude0
ClinVar
Risk rs193922205(A;A)
Alt rs193922205(A;A)
Reference rs193922205(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48760724A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029738.3,


[PMID 20082464OA-icon.png] FBN1 mutations in patients with descending thoracic aortic dissections.


[PMID 21542060] Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.