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rs869025422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 5.5 Marfan syndrome mutation
(G;G) 0 common in clinvar


Make rs869025422(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48427662
GeneFBN1
is asnp
is mentioned by
dbSNPrs869025422
dbSNP (classic)rs869025422
ClinGenrs869025422
ebirs869025422
HLIrs869025422
Exacrs869025422
Gnomadrs869025422
Varsomers869025422
LitVarrs869025422
Maprs869025422
PheGenIrs869025422
Biobankrs869025422
1000 genomesrs869025422
hgdprs869025422
ensemblrs869025422
geneviewrs869025422
scholarrs869025422
googlers869025422
pharmgkbrs869025422
gwascentralrs869025422
openSNPrs869025422
23andMers869025422
SNPshotrs869025422
SNPdbers869025422
MSV3drs869025422
GWAS Ctlgrs869025422
Max Magnitude5.5
ClinVar
Risk rs869025422(-;-)
Alt rs869025422(-;-)
Reference Rs869025422(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48719859delC
CLNSRC
CLNACC RCV000208317.1,