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rs111984349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111984349(C;T)
Make rs111984349(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position48415759
GeneFBN1
is asnp
is mentioned by
dbSNPrs111984349
dbSNP (old)rs111984349
ClinGenrs111984349
ebirs111984349
HLIrs111984349
Exacrs111984349
Gnomadrs111984349
Varsomers111984349
Maprs111984349
PheGenIrs111984349
Biobankrs111984349
1000 genomesrs111984349
hgdprs111984349
ensemblrs111984349
gopubmedrs111984349
geneviewrs111984349
scholarrs111984349
googlers111984349
pharmgkbrs111984349
gwascentralrs111984349
openSNPrs111984349
23andMers111984349
23andMe allrs111984349
SNPshotrs111984349
SNPdbers111984349
MSV3drs111984349
GWAS Ctlgrs111984349
Max Magnitude0
ClinVar
Risk rs111984349(T;T)
Alt rs111984349(T;T)
Reference Rs111984349(C;C)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000015.9:g.48707956C>T
CLNSRC
CLNACC RCV000253245.1,