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rs137854463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854463(A;C)
Make rs137854463(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48497391
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854463
ebirs137854463
HLIrs137854463
Exacrs137854463
Varsomers137854463
Maprs137854463
PheGenIrs137854463
hapmaprs137854463
1000 genomesrs137854463
hgdprs137854463
ensemblrs137854463
gopubmedrs137854463
geneviewrs137854463
scholarrs137854463
googlers137854463
pharmgkbrs137854463
gwascentralrs137854463
openSNPrs137854463
23andMers137854463
23andMe allrs137854463
SNP Nexus

SNPshotrs137854463
SNPdbers137854463
MSV3drs137854463
GWAS Ctlgrs137854463
Max Magnitude0
OMIM134797
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137854463(C;C)
Alt rs137854463(C;C)
Reference rs137854463(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48789588T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017895.27,