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rs727504651

From SNPedia

Orientationminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs727504651(AGGA;AGGA)
Make rs727504651(AGGA;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48411340
GeneFBN1
is asnp
is mentioned by
dbSNPrs727504651
ebirs727504651
HLIrs727504651
Exacrs727504651
Varsomers727504651
Maprs727504651
PheGenIrs727504651
hapmaprs727504651
1000 genomesrs727504651
hgdprs727504651
ensemblrs727504651
gopubmedrs727504651
geneviewrs727504651
scholarrs727504651
googlers727504651
pharmgkbrs727504651
gwascentralrs727504651
openSNPrs727504651
23andMers727504651
23andMe allrs727504651
SNP Nexus

SNPshotrs727504651
SNPdbers727504651
MSV3drs727504651
GWAS Ctlgrs727504651
Max Magnitude0
ClinVar
Risk rs727504651(AGGA;AGGA)
Alt rs727504651(AGGA;AGGA)
Reference rs727504651(TT;TT)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48703537_48703538delinsTCCT
CLNSRC
CLNACC RCV000155914.1,