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rs869025412

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025412(C;C)
Make rs869025412(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48430722
GeneFBN1
is asnp
is mentioned by
dbSNPrs869025412
ebirs869025412
HLIrs869025412
Exacrs869025412
Varsomers869025412
Maprs869025412
PheGenIrs869025412
hapmaprs869025412
1000 genomesrs869025412
hgdprs869025412
ensemblrs869025412
gopubmedrs869025412
geneviewrs869025412
scholarrs869025412
googlers869025412
pharmgkbrs869025412
gwascentralrs869025412
openSNPrs869025412
23andMers869025412
23andMe allrs869025412
SNP Nexus

SNPshotrs869025412
SNPdbers869025412
MSV3drs869025412
GWAS Ctlgrs869025412
Max Magnitude0
ClinVar
Risk rs869025412(C;C)
Alt rs869025412(C;C)
Reference rs869025412(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48722919A>G
CLNSRC
CLNACC RCV000208376.1,