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rs137854482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854482(A;A)
Make rs137854482(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48487389
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854482
ebirs137854482
HLIrs137854482
Exacrs137854482
Varsomers137854482
Maprs137854482
PheGenIrs137854482
hapmaprs137854482
1000 genomesrs137854482
hgdprs137854482
ensemblrs137854482
gopubmedrs137854482
geneviewrs137854482
scholarrs137854482
googlers137854482
pharmgkbrs137854482
gwascentralrs137854482
openSNPrs137854482
23andMers137854482
23andMe allrs137854482
SNP Nexus

SNPshotrs137854482
SNPdbers137854482
MSV3drs137854482
GWAS Ctlgrs137854482
Max Magnitude0
OMIM134797
Desc
Variant0044
Relatedalso
ClinVar
Risk rs137854482(A;A)
Alt rs137854482(A;A)
Reference rs137854482(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48779586C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017927.27,