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rs137854472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854472(A;G)
Make rs137854472(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48488448
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854472
ebirs137854472
HLIrs137854472
Exacrs137854472
Varsomers137854472
Maprs137854472
PheGenIrs137854472
hapmaprs137854472
1000 genomesrs137854472
hgdprs137854472
ensemblrs137854472
gopubmedrs137854472
geneviewrs137854472
scholarrs137854472
googlers137854472
pharmgkbrs137854472
gwascentralrs137854472
openSNPrs137854472
23andMers137854472
23andMe allrs137854472
SNP Nexus

SNPshotrs137854472
SNPdbers137854472
MSV3drs137854472
GWAS Ctlgrs137854472
Max Magnitude0
OMIM134797
Desc
Variant0027
Relatedalso
ClinVar
Risk rs137854472(G;G)
Alt rs137854472(G;G)
Reference rs137854472(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, neonatal
Reversed 1
HGVS NC_000015.9:g.48780645T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017909.27,