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rs587782944

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782944(A;A)
Make rs587782944(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48513641
GeneFBN1
is asnp
is mentioned by
dbSNPrs587782944
ebirs587782944
HLIrs587782944
Exacrs587782944
Varsomers587782944
Maprs587782944
PheGenIrs587782944
hapmaprs587782944
1000 genomesrs587782944
hgdprs587782944
ensemblrs587782944
gopubmedrs587782944
geneviewrs587782944
scholarrs587782944
googlers587782944
pharmgkbrs587782944
gwascentralrs587782944
openSNPrs587782944
23andMers587782944
23andMe allrs587782944
SNP Nexus

SNPshotrs587782944
SNPdbers587782944
MSV3drs587782944
GWAS Ctlgrs587782944
Max Magnitude0
ClinVar
Risk rs587782944(A;A)
Alt rs587782944(A;A)
Reference rs587782944(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48805838C>T
CLNSRC
CLNACC RCV000143890.1,