Have questions? Visit https://www.reddit.com/r/SNPedia

rs137854473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854473(A;T)
Make rs137854473(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48487384
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854473
ebirs137854473
HLIrs137854473
Exacrs137854473
Varsomers137854473
Maprs137854473
PheGenIrs137854473
hapmaprs137854473
1000 genomesrs137854473
hgdprs137854473
ensemblrs137854473
gopubmedrs137854473
geneviewrs137854473
scholarrs137854473
googlers137854473
pharmgkbrs137854473
gwascentralrs137854473
openSNPrs137854473
23andMers137854473
23andMe allrs137854473
SNP Nexus

SNPshotrs137854473
SNPdbers137854473
MSV3drs137854473
GWAS Ctlgrs137854473
Max Magnitude0
OMIM134797
Desc
Variant0028
Relatedalso
ClinVar
Risk rs137854473(T;T)
Alt rs137854473(T;T)
Reference rs137854473(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, neonatal
Reversed 1
HGVS NC_000015.9:g.48779581T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017910.27,