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rs794728296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AATAATGGACG;AATAATGGACG) 0 common in clinvar
Make rs794728296(-;-)
Make rs794728296(-;AATAATGGACG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48510124
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728296
dbSNP (classic)rs794728296
ClinGenrs794728296
ebirs794728296
HLIrs794728296
Exacrs794728296
Gnomadrs794728296
Varsomers794728296
LitVarrs794728296
Maprs794728296
PheGenIrs794728296
Biobankrs794728296
1000 genomesrs794728296
hgdprs794728296
ensemblrs794728296
geneviewrs794728296
scholarrs794728296
googlers794728296
pharmgkbrs794728296
gwascentralrs794728296
openSNPrs794728296
23andMers794728296
SNPshotrs794728296
SNPdbers794728296
MSV3drs794728296
GWAS Ctlgrs794728296
Max Magnitude0
ClinVar
Risk rs794728296(-;-)
Alt rs794728296(-;-)
Reference Rs794728296(AATAATGGACG;AATAATGGACG)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48802321_48802331delCGTCCATTATT
CLNSRC
CLNACC RCV000181651.1,