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rs794728196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728196(C;T)
Make rs794728196(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48495129
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728196
dbSNP (classic)rs794728196
ClinGenrs794728196
ebirs794728196
HLIrs794728196
Exacrs794728196
Gnomadrs794728196
Varsomers794728196
LitVarrs794728196
Maprs794728196
PheGenIrs794728196
Biobankrs794728196
1000 genomesrs794728196
hgdprs794728196
ensemblrs794728196
geneviewrs794728196
scholarrs794728196
googlers794728196
pharmgkbrs794728196
gwascentralrs794728196
openSNPrs794728196
23andMers794728196
SNPshotrs794728196
SNPdbers794728196
MSV3drs794728196
GWAS Ctlgrs794728196
Max Magnitude0
ClinVar
Risk rs794728196(T;T)
Alt rs794728196(T;T)
Reference Rs794728196(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48787326G>A
CLNSRC
CLNACC RCV000181466.1,