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rs794728271

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728271(G;T)
Make rs794728271(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48425802
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728271
dbSNP (classic)rs794728271
ClinGenrs794728271
ebirs794728271
HLIrs794728271
Exacrs794728271
Gnomadrs794728271
Varsomers794728271
LitVarrs794728271
Maprs794728271
PheGenIrs794728271
Biobankrs794728271
1000 genomesrs794728271
hgdprs794728271
ensemblrs794728271
geneviewrs794728271
scholarrs794728271
googlers794728271
pharmgkbrs794728271
gwascentralrs794728271
openSNPrs794728271
23andMers794728271
SNPshotrs794728271
SNPdbers794728271
MSV3drs794728271
GWAS Ctlgrs794728271
Max Magnitude0
ClinVar
Risk rs794728271(T;T)
Alt rs794728271(T;T)
Reference Rs794728271(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48717999C>A
CLNSRC
CLNACC RCV000181598.1,