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rs794728266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728266(A;A)
Make rs794728266(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48425865
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728266
dbSNP (classic)rs794728266
ClinGenrs794728266
ebirs794728266
HLIrs794728266
Exacrs794728266
Gnomadrs794728266
Varsomers794728266
LitVarrs794728266
Maprs794728266
PheGenIrs794728266
Biobankrs794728266
1000 genomesrs794728266
hgdprs794728266
ensemblrs794728266
geneviewrs794728266
scholarrs794728266
googlers794728266
pharmgkbrs794728266
gwascentralrs794728266
openSNPrs794728266
23andMers794728266
SNPshotrs794728266
SNPdbers794728266
MSV3drs794728266
GWAS Ctlgrs794728266
Max Magnitude0
ClinVar
Risk rs794728266(A;A)
Alt rs794728266(A;A)
Reference Rs794728266(G;G)
Significance Pathogenic
Disease not provided Marfan syndrome
Variation info
Gene FBN1
CLNDBN not provided Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48718062C>T
CLNSRC
CLNACC RCV000181593.1, RCV000228968.1,