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rs727504454

From SNPedia

Orientationminus
Geno Mag Summary
(GGA;GGA) 0 common in clinvar
Make rs727504454(-;-)
Make rs727504454(-;GGA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48411131
GeneFBN1
is asnp
is mentioned by
dbSNPrs727504454
ebirs727504454
HLIrs727504454
Exacrs727504454
Varsomers727504454
Maprs727504454
PheGenIrs727504454
hapmaprs727504454
1000 genomesrs727504454
hgdprs727504454
ensemblrs727504454
gopubmedrs727504454
geneviewrs727504454
scholarrs727504454
googlers727504454
pharmgkbrs727504454
gwascentralrs727504454
openSNPrs727504454
23andMers727504454
23andMe allrs727504454
SNP Nexus

SNPshotrs727504454
SNPdbers727504454
MSV3drs727504454
GWAS Ctlgrs727504454
Max Magnitude0
ClinVar
Risk rs727504454(;)
Alt rs727504454(;)
Reference rs727504454(GGA;GGA)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48703328_48703330delTCC
CLNSRC
CLNACC RCV000155431.2,