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rs794728174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794728174(G;G)
Make rs794728174(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48508693
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728174
dbSNP (classic)rs794728174
ClinGenrs794728174
ebirs794728174
HLIrs794728174
Exacrs794728174
Gnomadrs794728174
Varsomers794728174
LitVarrs794728174
Maprs794728174
PheGenIrs794728174
Biobankrs794728174
1000 genomesrs794728174
hgdprs794728174
ensemblrs794728174
geneviewrs794728174
scholarrs794728174
googlers794728174
pharmgkbrs794728174
gwascentralrs794728174
openSNPrs794728174
23andMers794728174
SNPshotrs794728174
SNPdbers794728174
MSV3drs794728174
GWAS Ctlgrs794728174
Max Magnitude0
ClinVar
Risk rs794728174(G;G)
Alt rs794728174(G;G)
Reference Rs794728174(T;T)
Significance Pathogenic
Disease not provided Marfan syndrome
Variation info
Gene FBN1
CLNDBN not provided Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48800890A>C
CLNSRC
CLNACC RCV000181440.1, RCV000468400.1,