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rs587782948

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782948(G;T)
Make rs587782948(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48411085
GeneFBN1
is asnp
is mentioned by
dbSNPrs587782948
ebirs587782948
HLIrs587782948
Exacrs587782948
Varsomers587782948
Maprs587782948
PheGenIrs587782948
hapmaprs587782948
1000 genomesrs587782948
hgdprs587782948
ensemblrs587782948
gopubmedrs587782948
geneviewrs587782948
scholarrs587782948
googlers587782948
pharmgkbrs587782948
gwascentralrs587782948
openSNPrs587782948
23andMers587782948
23andMe allrs587782948
SNP Nexus

SNPshotrs587782948
SNPdbers587782948
MSV3drs587782948
GWAS Ctlgrs587782948
Max Magnitude0
ClinVar
Risk rs587782948(T;T)
Alt rs587782948(T;T)
Reference rs587782948(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48703282C>A
CLNSRC
CLNACC RCV000143895.1,