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rs25388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs25388(C;T)
Make rs25388(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48610768
GeneFBN1
is asnp
is mentioned by
dbSNPrs25388
dbSNP (old)rs25388
ClinGenrs25388
ebirs25388
HLIrs25388
Exacrs25388
Gnomadrs25388
Varsomers25388
Maprs25388
PheGenIrs25388
Biobankrs25388
1000 genomesrs25388
hgdprs25388
ensemblrs25388
gopubmedrs25388
geneviewrs25388
scholarrs25388
googlers25388
pharmgkbrs25388
gwascentralrs25388
openSNPrs25388
23andMers25388
23andMe allrs25388
SNPshotrs25388
SNPdbers25388
MSV3drs25388
GWAS Ctlgrs25388
Max Magnitude0
ClinVar
Risk rs25388(A;A) rs25388(T;T)
Alt rs25388(A;A) rs25388(T;T)
Reference Rs25388(C;C)
Significance Probable-Pathogenic
Disease not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection MASS syndrome Ectopia lentis Weill-Marchesani syndrome Stiff skin syndrome Geleophysic dysplasia Acromicric dysplasia not provided
Variation info
Gene FBN1
CLNDBN not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection MASS syndrome Ectopia lentis Weill-Marchesani syndrome Stiff skin syndrome Geleophysic dysplasia Acromicric dysplasia not provided
Reversed 1
HGVS NC_000015.9:g.48902965G>A; NC_000015.9:g.48902965G>T
CLNSRC
CLNACC RCV000154417.4, RCV000230637.2, RCV000253616.2, RCV000287932.1, RCV000293746.1, RCV000313423.1, RCV000347453.1, RCV000348609.1, RCV000382318.1, RCV000407439.1, RCV000441111.1,