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

rs137854485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854485(C;T)
Make rs137854485(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48515402
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854485
ClinGenrs137854485
ebirs137854485
HLIrs137854485
Exacrs137854485
Varsomers137854485
Maprs137854485
PheGenIrs137854485
hapmaprs137854485
1000 genomesrs137854485
hgdprs137854485
ensemblrs137854485
gopubmedrs137854485
geneviewrs137854485
scholarrs137854485
googlers137854485
pharmgkbrs137854485
gwascentralrs137854485
openSNPrs137854485
23andMers137854485
23andMe allrs137854485
SNP Nexus

SNPshotrs137854485
SNPdbers137854485
MSV3drs137854485
GWAS Ctlgrs137854485
Max Magnitude0
OMIM134797
Desc
Variant0047
Relatedalso
ClinVar
Risk rs137854485(T;T)
Alt rs137854485(T;T)
Reference Rs137854485(C;C)
Significance Pathogenic
Disease Marfan syndrome not specified
Variation info
Gene FBN1
CLNDBN Marfan syndrome, autosomal recessive not specified
Reversed 1
HGVS NC_000015.9:g.48807599G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017930.27, RCV000150705.1,