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rs137854461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854461(A;G)
Make rs137854461(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48437026
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854461
ebirs137854461
HLIrs137854461
Exacrs137854461
Varsomers137854461
Maprs137854461
PheGenIrs137854461
hapmaprs137854461
1000 genomesrs137854461
hgdprs137854461
ensemblrs137854461
gopubmedrs137854461
geneviewrs137854461
scholarrs137854461
googlers137854461
pharmgkbrs137854461
gwascentralrs137854461
openSNPrs137854461
23andMers137854461
23andMe allrs137854461
SNP Nexus

SNPshotrs137854461
SNPdbers137854461
MSV3drs137854461
GWAS Ctlgrs137854461
Max Magnitude0
OMIM134797
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137854461(G;G)
Alt rs137854461(G;G)
Reference rs137854461(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48729223T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017893.28,