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rs869025415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5.5 Marfan syndrome mutation
Make rs869025415(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48425401
GeneFBN1
is asnp
is mentioned by
dbSNPrs869025415
dbSNP (classic)rs869025415
ClinGenrs869025415
ebirs869025415
HLIrs869025415
Exacrs869025415
Gnomadrs869025415
Varsomers869025415
LitVarrs869025415
Maprs869025415
PheGenIrs869025415
Biobankrs869025415
1000 genomesrs869025415
hgdprs869025415
ensemblrs869025415
geneviewrs869025415
scholarrs869025415
googlers869025415
pharmgkbrs869025415
gwascentralrs869025415
openSNPrs869025415
23andMers869025415
SNPshotrs869025415
SNPdbers869025415
MSV3drs869025415
GWAS Ctlgrs869025415
Max Magnitude5.5
ClinVar
Risk rs869025415(G;G)
Alt rs869025415(G;G)
Reference Rs869025415(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48717598T>C
CLNSRC
CLNACC RCV000208392.1,