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rs794728167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794728167(C;C)
Make rs794728167(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48515385
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728167
dbSNP (classic)rs794728167
ClinGenrs794728167
ebirs794728167
HLIrs794728167
Exacrs794728167
Gnomadrs794728167
Varsomers794728167
LitVarrs794728167
Maprs794728167
PheGenIrs794728167
Biobankrs794728167
1000 genomesrs794728167
hgdprs794728167
ensemblrs794728167
geneviewrs794728167
scholarrs794728167
googlers794728167
pharmgkbrs794728167
gwascentralrs794728167
openSNPrs794728167
23andMers794728167
SNPshotrs794728167
SNPdbers794728167
MSV3drs794728167
GWAS Ctlgrs794728167
Max Magnitude0
ClinVar
Risk rs794728167(C;C)
Alt rs794728167(C;C)
Reference Rs794728167(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48807582A>G
CLNSRC
CLNACC RCV000181431.1,