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rs794728251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728251(C;G)
Make rs794728251(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48437004
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728251
dbSNP (classic)rs794728251
ClinGenrs794728251
ebirs794728251
HLIrs794728251
Exacrs794728251
Gnomadrs794728251
Varsomers794728251
LitVarrs794728251
Maprs794728251
PheGenIrs794728251
Biobankrs794728251
1000 genomesrs794728251
hgdprs794728251
ensemblrs794728251
geneviewrs794728251
scholarrs794728251
googlers794728251
pharmgkbrs794728251
gwascentralrs794728251
openSNPrs794728251
23andMers794728251
SNPshotrs794728251
SNPdbers794728251
MSV3drs794728251
GWAS Ctlgrs794728251
Max Magnitude0
ClinVar
Risk rs794728251(G;G) rs794728251(T;T)
Alt rs794728251(G;G) rs794728251(T;T)
Reference Rs794728251(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48729201G>C
CLNSRC
CLNACC RCV000181569.2,