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rs137854483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854483(A;A)
Make rs137854483(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48485424
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854483
ebirs137854483
HLIrs137854483
Exacrs137854483
Varsomers137854483
Maprs137854483
PheGenIrs137854483
hapmaprs137854483
1000 genomesrs137854483
hgdprs137854483
ensemblrs137854483
gopubmedrs137854483
geneviewrs137854483
scholarrs137854483
googlers137854483
pharmgkbrs137854483
gwascentralrs137854483
openSNPrs137854483
23andMers137854483
23andMe allrs137854483
SNP Nexus

SNPshotrs137854483
SNPdbers137854483
MSV3drs137854483
GWAS Ctlgrs137854483
Max Magnitude0
OMIM134797
Desc
Variant0045
Relatedalso
ClinVar
Risk rs137854483(A;A)
Alt rs137854483(A;A)
Reference rs137854483(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48777621C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030943.23,