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rs794728239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794728239(C;C)
Make rs794728239(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48446727
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728239
dbSNP (classic)rs794728239
ClinGenrs794728239
ebirs794728239
HLIrs794728239
Exacrs794728239
Gnomadrs794728239
Varsomers794728239
LitVarrs794728239
Maprs794728239
PheGenIrs794728239
Biobankrs794728239
1000 genomesrs794728239
hgdprs794728239
ensemblrs794728239
geneviewrs794728239
scholarrs794728239
googlers794728239
pharmgkbrs794728239
gwascentralrs794728239
openSNPrs794728239
23andMers794728239
SNPshotrs794728239
SNPdbers794728239
MSV3drs794728239
GWAS Ctlgrs794728239
Max Magnitude0
ClinVar
Risk rs794728239(C;C)
Alt rs794728239(C;C)
Reference Rs794728239(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48738924A>G
CLNSRC
CLNACC RCV000181549.1,