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rs727503057

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503057(C;T)
Make rs727503057(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48505106
GeneFBN1
is asnp
is mentioned by
dbSNPrs727503057
ebirs727503057
HLIrs727503057
Exacrs727503057
Varsomers727503057
Maprs727503057
PheGenIrs727503057
hapmaprs727503057
1000 genomesrs727503057
hgdprs727503057
ensemblrs727503057
gopubmedrs727503057
geneviewrs727503057
scholarrs727503057
googlers727503057
pharmgkbrs727503057
gwascentralrs727503057
openSNPrs727503057
23andMers727503057
23andMe allrs727503057
SNP Nexus

SNPshotrs727503057
SNPdbers727503057
MSV3drs727503057
GWAS Ctlgrs727503057
Max Magnitude0
ClinVar
Risk rs727503057(T;T)
Alt rs727503057(T;T)
Reference rs727503057(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48797303G>A
CLNSRC
CLNACC RCV000150704.1,