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

rs727504410

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.5 Marfan syndrome mutation
Make rs727504410(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48428457
GeneFBN1
is asnp
is mentioned by
dbSNPrs727504410
dbSNP (classic)rs727504410
ClinGenrs727504410
ebirs727504410
HLIrs727504410
Exacrs727504410
Gnomadrs727504410
Varsomers727504410
LitVarrs727504410
Maprs727504410
PheGenIrs727504410
Biobankrs727504410
1000 genomesrs727504410
hgdprs727504410
ensemblrs727504410
geneviewrs727504410
scholarrs727504410
googlers727504410
pharmgkbrs727504410
gwascentralrs727504410
openSNPrs727504410
23andMers727504410
SNPshotrs727504410
SNPdbers727504410
MSV3drs727504410
GWAS Ctlgrs727504410
Max Magnitude5.5
ClinVar
Risk rs727504410(T;T)
Alt rs727504410(T;T)
Reference Rs727504410(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48720654G>A
CLNSRC
CLNACC RCV000154597.2,