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rs794728335

From SNPedia

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


Make rs794728335(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48437032
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728335
dbSNP (classic)rs794728335
ClinGenrs794728335
ebirs794728335
HLIrs794728335
Exacrs794728335
Gnomadrs794728335
Varsomers794728335
LitVarrs794728335
Maprs794728335
PheGenIrs794728335
Biobankrs794728335
1000 genomesrs794728335
hgdprs794728335
ensemblrs794728335
geneviewrs794728335
scholarrs794728335
googlers794728335
pharmgkbrs794728335
gwascentralrs794728335
openSNPrs794728335
23andMers794728335
SNPshotrs794728335
SNPdbers794728335
MSV3drs794728335
GWAS Ctlgrs794728335
Max Magnitude5.5
ClinVar
Risk rs794728335(A;A)
Alt rs794728335(A;A)
Reference Rs794728335(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48729229C>T
CLNSRC
CLNACC RCV000181699.1,