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rs794728257

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728257(A;A)
Make rs794728257(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48430671
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728257
dbSNP (classic)rs794728257
ClinGenrs794728257
ebirs794728257
HLIrs794728257
Exacrs794728257
Gnomadrs794728257
Varsomers794728257
LitVarrs794728257
Maprs794728257
PheGenIrs794728257
Biobankrs794728257
1000 genomesrs794728257
hgdprs794728257
ensemblrs794728257
geneviewrs794728257
scholarrs794728257
googlers794728257
pharmgkbrs794728257
gwascentralrs794728257
openSNPrs794728257
23andMers794728257
SNPshotrs794728257
SNPdbers794728257
MSV3drs794728257
GWAS Ctlgrs794728257
Max Magnitude0
ClinVar
Risk rs794728257(A;A)
Alt rs794728257(A;A)
Reference Rs794728257(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48722868C>T
CLNSRC
CLNACC RCV000181580.2,