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rs587782946

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587782946(C;T)
Make rs587782946(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48470688
GeneFBN1
is asnp
is mentioned by
dbSNPrs587782946
ebirs587782946
HLIrs587782946
Exacrs587782946
Varsomers587782946
Maprs587782946
PheGenIrs587782946
hapmaprs587782946
1000 genomesrs587782946
hgdprs587782946
ensemblrs587782946
gopubmedrs587782946
geneviewrs587782946
scholarrs587782946
googlers587782946
pharmgkbrs587782946
gwascentralrs587782946
openSNPrs587782946
23andMers587782946
23andMe allrs587782946
SNP Nexus

SNPshotrs587782946
SNPdbers587782946
MSV3drs587782946
GWAS Ctlgrs587782946
Max Magnitude0
ClinVar
Risk rs587782946(T;T)
Alt rs587782946(T;T)
Reference rs587782946(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48762885G>A
CLNSRC
CLNACC RCV000143893.1,