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rs794728254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728254(A;A)
Make rs794728254(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48432955
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728254
dbSNP (classic)rs794728254
ClinGenrs794728254
ebirs794728254
HLIrs794728254
Exacrs794728254
Gnomadrs794728254
Varsomers794728254
LitVarrs794728254
Maprs794728254
PheGenIrs794728254
Biobankrs794728254
1000 genomesrs794728254
hgdprs794728254
ensemblrs794728254
geneviewrs794728254
scholarrs794728254
googlers794728254
pharmgkbrs794728254
gwascentralrs794728254
openSNPrs794728254
23andMers794728254
SNPshotrs794728254
SNPdbers794728254
MSV3drs794728254
GWAS Ctlgrs794728254
Max Magnitude0
ClinVar
Risk rs794728254(A;A)
Alt rs794728254(A;A)
Reference Rs794728254(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48725152C>T
CLNSRC
CLNACC RCV000181573.1,