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rs794728176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728176(A;A)
Make rs794728176(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48508602
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728176
dbSNP (classic)rs794728176
ClinGenrs794728176
ebirs794728176
HLIrs794728176
Exacrs794728176
Gnomadrs794728176
Varsomers794728176
LitVarrs794728176
Maprs794728176
PheGenIrs794728176
Biobankrs794728176
1000 genomesrs794728176
hgdprs794728176
ensemblrs794728176
geneviewrs794728176
scholarrs794728176
googlers794728176
pharmgkbrs794728176
gwascentralrs794728176
openSNPrs794728176
23andMers794728176
SNPshotrs794728176
SNPdbers794728176
MSV3drs794728176
GWAS Ctlgrs794728176
Max Magnitude0
ClinVar
Risk rs794728176(A;A)
Alt rs794728176(A;A)
Reference Rs794728176(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48800799G>T
CLNSRC
CLNACC RCV000181442.2,