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rs794728202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728202(G;T)
Make rs794728202(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48488403
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728202
dbSNP (classic)rs794728202
ClinGenrs794728202
ebirs794728202
HLIrs794728202
Exacrs794728202
Gnomadrs794728202
Varsomers794728202
LitVarrs794728202
Maprs794728202
PheGenIrs794728202
Biobankrs794728202
1000 genomesrs794728202
hgdprs794728202
ensemblrs794728202
geneviewrs794728202
scholarrs794728202
googlers794728202
pharmgkbrs794728202
gwascentralrs794728202
openSNPrs794728202
23andMers794728202
SNPshotrs794728202
SNPdbers794728202
MSV3drs794728202
GWAS Ctlgrs794728202
Max Magnitude0
ClinVar
Risk rs794728202(T;T)
Alt rs794728202(T;T)
Reference Rs794728202(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48780600C>A
CLNSRC
CLNACC RCV000181480.1,