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rs794728179

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728179(A;A)
Make rs794728179(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48505095
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728179
dbSNP (classic)rs794728179
ClinGenrs794728179
ebirs794728179
HLIrs794728179
Exacrs794728179
Gnomadrs794728179
Varsomers794728179
LitVarrs794728179
Maprs794728179
PheGenIrs794728179
Biobankrs794728179
1000 genomesrs794728179
hgdprs794728179
ensemblrs794728179
geneviewrs794728179
scholarrs794728179
googlers794728179
pharmgkbrs794728179
gwascentralrs794728179
openSNPrs794728179
23andMers794728179
SNPshotrs794728179
SNPdbers794728179
MSV3drs794728179
GWAS Ctlgrs794728179
Max Magnitude0
ClinVar
Risk rs794728179(A;A)
Alt rs794728179(A;A)
Reference Rs794728179(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48797292G>T
CLNSRC
CLNACC RCV000181447.2,