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rs112911555

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112911555(C;T)
Make rs112911555(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48490072
GeneFBN1
is asnp
is mentioned by
dbSNPrs112911555
ebirs112911555
HLIrs112911555
Exacrs112911555
Varsomers112911555
Maprs112911555
PheGenIrs112911555
hapmaprs112911555
1000 genomesrs112911555
hgdprs112911555
ensemblrs112911555
gopubmedrs112911555
geneviewrs112911555
scholarrs112911555
googlers112911555
pharmgkbrs112911555
gwascentralrs112911555
openSNPrs112911555
23andMers112911555
23andMe allrs112911555
SNP Nexus

SNPshotrs112911555
SNPdbers112911555
MSV3drs112911555
GWAS Ctlgrs112911555
Max Magnitude0
ClinVar
Risk rs112911555(T;T)
Alt rs112911555(T;T)
Reference rs112911555(C;C)
Significance Pathogenic
Disease not provided Marfan syndrome
Variation info
Gene FBN1
CLNDBN not provided Marfan syndrome
Reversed 0
HGVS NC_000015.9:g.48782269C>T
CLNSRC
CLNACC RCV000181469.1, RCV000208533.1,