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rs137854484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854484(A;A)
Make rs137854484(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48488193
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854484
ebirs137854484
HLIrs137854484
Exacrs137854484
Varsomers137854484
Maprs137854484
PheGenIrs137854484
hapmaprs137854484
1000 genomesrs137854484
hgdprs137854484
ensemblrs137854484
gopubmedrs137854484
geneviewrs137854484
scholarrs137854484
googlers137854484
pharmgkbrs137854484
gwascentralrs137854484
openSNPrs137854484
23andMers137854484
23andMe allrs137854484
SNP Nexus

SNPshotrs137854484
SNPdbers137854484
MSV3drs137854484
GWAS Ctlgrs137854484
Max Magnitude0
OMIM134797
Desc
Variant0046
Relatedalso
ClinVar
Risk rs137854484(A;A)
Alt rs137854484(A;A)
Reference rs137854484(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, neonatal
Reversed 1
HGVS NC_000015.9:g.48780390C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017929.27,