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rs137854481

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854481(A;A)
Make rs137854481(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48488481
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854481
ebirs137854481
HLIrs137854481
Exacrs137854481
Varsomers137854481
Maprs137854481
PheGenIrs137854481
hapmaprs137854481
1000 genomesrs137854481
hgdprs137854481
ensemblrs137854481
gopubmedrs137854481
geneviewrs137854481
scholarrs137854481
googlers137854481
pharmgkbrs137854481
gwascentralrs137854481
openSNPrs137854481
23andMers137854481
23andMe allrs137854481
SNP Nexus

SNPshotrs137854481
SNPdbers137854481
MSV3drs137854481
GWAS Ctlgrs137854481
Merged fromRs28929501
Max Magnitude0
OMIM134797
Desc
Variant0043
Relatedalso
ClinVar
Risk rs137854481(A;A)
Alt rs137854481(A;A)
Reference Rs137854481(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, neonatal
Reversed 1
HGVS NC_000015.9:g.48780678C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017926.27,