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rs727504347

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504347(-;-)
Make rs727504347(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48463240
GeneFBN1
is asnp
is mentioned by
dbSNPrs727504347
ebirs727504347
HLIrs727504347
Exacrs727504347
Varsomers727504347
Maprs727504347
PheGenIrs727504347
hapmaprs727504347
1000 genomesrs727504347
hgdprs727504347
ensemblrs727504347
gopubmedrs727504347
geneviewrs727504347
scholarrs727504347
googlers727504347
pharmgkbrs727504347
gwascentralrs727504347
openSNPrs727504347
23andMers727504347
23andMe allrs727504347
SNP Nexus

SNPshotrs727504347
SNPdbers727504347
MSV3drs727504347
GWAS Ctlgrs727504347
Max Magnitude0
ClinVar
Risk rs727504347(;)
Alt rs727504347(;)
Reference rs727504347(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48755437delT
CLNSRC
CLNACC RCV000154468.1,