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rs137854465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854465(C;C)
Make rs137854465(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48488230
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854465
ebirs137854465
HLIrs137854465
Exacrs137854465
Varsomers137854465
Maprs137854465
PheGenIrs137854465
hapmaprs137854465
1000 genomesrs137854465
hgdprs137854465
ensemblrs137854465
gopubmedrs137854465
geneviewrs137854465
scholarrs137854465
googlers137854465
pharmgkbrs137854465
gwascentralrs137854465
openSNPrs137854465
23andMers137854465
23andMe allrs137854465
SNP Nexus

SNPshotrs137854465
SNPdbers137854465
MSV3drs137854465
GWAS Ctlgrs137854465
Max Magnitude0
OMIM134797
Desc
Variant0016
Relatedalso
ClinVar
Risk rs137854465(C;C)
Alt rs137854465(C;C)
Reference rs137854465(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, neonatal
Reversed 1
HGVS NC_000015.9:g.48780427A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017900.27,