Have questions? Visit https://www.reddit.com/r/SNPedia

rs587782947

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782947(G;T)
Make rs587782947(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48446711
GeneFBN1
is asnp
is mentioned by
dbSNPrs587782947
ebirs587782947
HLIrs587782947
Exacrs587782947
Varsomers587782947
Maprs587782947
PheGenIrs587782947
hapmaprs587782947
1000 genomesrs587782947
hgdprs587782947
ensemblrs587782947
gopubmedrs587782947
geneviewrs587782947
scholarrs587782947
googlers587782947
pharmgkbrs587782947
gwascentralrs587782947
openSNPrs587782947
23andMers587782947
23andMe allrs587782947
SNP Nexus

SNPshotrs587782947
SNPdbers587782947
MSV3drs587782947
GWAS Ctlgrs587782947
Max Magnitude0
ClinVar
Risk rs587782947(T;T)
Alt rs587782947(T;T)
Reference rs587782947(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48738908C>A
CLNSRC
CLNACC RCV000143894.2,