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rs727503058

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727503058(C;C)
Make rs727503058(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48644604
GeneFBN1, LOC105370809
is asnp
is mentioned by
dbSNPrs727503058
ebirs727503058
HLIrs727503058
Exacrs727503058
Varsomers727503058
Maprs727503058
PheGenIrs727503058
hapmaprs727503058
1000 genomesrs727503058
hgdprs727503058
ensemblrs727503058
gopubmedrs727503058
geneviewrs727503058
scholarrs727503058
googlers727503058
pharmgkbrs727503058
gwascentralrs727503058
openSNPrs727503058
23andMers727503058
23andMe allrs727503058
SNP Nexus

SNPshotrs727503058
SNPdbers727503058
MSV3drs727503058
GWAS Ctlgrs727503058
Max Magnitude0
ClinVar
Risk rs727503058(C;C)
Alt rs727503058(C;C)
Reference rs727503058(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48936801A>G
CLNSRC
CLNACC RCV000150706.1,