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rs794728289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728289(C;C)
Make rs794728289(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48613045
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728289
dbSNP (classic)rs794728289
ClinGenrs794728289
ebirs794728289
HLIrs794728289
Exacrs794728289
Gnomadrs794728289
Varsomers794728289
LitVarrs794728289
Maprs794728289
PheGenIrs794728289
Biobankrs794728289
1000 genomesrs794728289
hgdprs794728289
ensemblrs794728289
geneviewrs794728289
scholarrs794728289
googlers794728289
pharmgkbrs794728289
gwascentralrs794728289
openSNPrs794728289
23andMers794728289
SNPshotrs794728289
SNPdbers794728289
MSV3drs794728289
GWAS Ctlgrs794728289
Max Magnitude0
ClinVar
Risk rs794728289(C;C)
Alt rs794728289(C;C)
Reference Rs794728289(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48905242C>G
CLNSRC
CLNACC RCV000181640.2,