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rs137854469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854469(A;A)
Make rs137854469(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48485418
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854469
ebirs137854469
HLIrs137854469
Exacrs137854469
Varsomers137854469
Maprs137854469
PheGenIrs137854469
hapmaprs137854469
1000 genomesrs137854469
hgdprs137854469
ensemblrs137854469
gopubmedrs137854469
geneviewrs137854469
scholarrs137854469
googlers137854469
pharmgkbrs137854469
gwascentralrs137854469
openSNPrs137854469
23andMers137854469
23andMe allrs137854469
SNP Nexus

SNPshotrs137854469
SNPdbers137854469
MSV3drs137854469
GWAS Ctlgrs137854469
Max Magnitude0
OMIM134797
Desc
Variant0022
Relatedalso
ClinVar
Risk rs137854469(A;A)
Alt rs137854469(A;A)
Reference rs137854469(G;G)
Significance Pathogenic
Disease not provided Marfan syndrome
Variation info
Gene FBN1
CLNDBN not provided Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48777615C>A; NC_000015.9:g.48777615C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000181691.1, RCV000017906.27,