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rs193922245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922245(A;G)
Make rs193922245(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48644687
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922245
ebirs193922245
HLIrs193922245
Exacrs193922245
Varsomers193922245
Maprs193922245
PheGenIrs193922245
hapmaprs193922245
1000 genomesrs193922245
hgdprs193922245
ensemblrs193922245
gopubmedrs193922245
geneviewrs193922245
scholarrs193922245
googlers193922245
pharmgkbrs193922245
gwascentralrs193922245
openSNPrs193922245
23andMers193922245
23andMe allrs193922245
SNP Nexus

SNPshotrs193922245
SNPdbers193922245
MSV3drs193922245
GWAS Ctlgrs193922245
Max Magnitude0
ClinVar
Risk rs193922245(G;G)
Alt rs193922245(G;G)
Reference rs193922245(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome not specified Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Marfan syndrome not specified Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48936884T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029793.1, RCV000181490.2, RCV000231311.1,