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rs794728280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794728280(A;G)
Make rs794728280(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48415671
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728280
dbSNP (classic)rs794728280
ClinGenrs794728280
ebirs794728280
HLIrs794728280
Exacrs794728280
Gnomadrs794728280
Varsomers794728280
LitVarrs794728280
Maprs794728280
PheGenIrs794728280
Biobankrs794728280
1000 genomesrs794728280
hgdprs794728280
ensemblrs794728280
geneviewrs794728280
scholarrs794728280
googlers794728280
pharmgkbrs794728280
gwascentralrs794728280
openSNPrs794728280
23andMers794728280
SNPshotrs794728280
SNPdbers794728280
MSV3drs794728280
GWAS Ctlgrs794728280
Max Magnitude0
ClinVar
Risk rs794728280(G;G)
Alt rs794728280(G;G)
Reference Rs794728280(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48707868T>C
CLNSRC
CLNACC RCV000181620.2,