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rs137854478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854478(A;A)
Make rs137854478(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48488233
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854478
ebirs137854478
HLIrs137854478
Exacrs137854478
Varsomers137854478
Maprs137854478
PheGenIrs137854478
hapmaprs137854478
1000 genomesrs137854478
hgdprs137854478
ensemblrs137854478
gopubmedrs137854478
geneviewrs137854478
scholarrs137854478
googlers137854478
pharmgkbrs137854478
gwascentralrs137854478
openSNPrs137854478
23andMers137854478
23andMe allrs137854478
SNP Nexus

SNPshotrs137854478
SNPdbers137854478
MSV3drs137854478
GWAS Ctlgrs137854478
Max Magnitude0
OMIM134797
Desc
Variant0038
Relatedalso
ClinVar
Risk rs137854478(A;A)
Alt rs137854478(A;A)
Reference rs137854478(G;G)
Significance Pathogenic
Disease Marfan syndrome not provided Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, neonatal not provided Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48780430C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017920.27, RCV000181482.2, RCV000227621.1,