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rs363853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs363853(C;C)
Make rs363853(C;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position48596292
GeneFBN1
is asnp
is mentioned by
dbSNPrs363853
ebirs363853
HLIrs363853
Exacrs363853
Varsomers363853
Maprs363853
PheGenIrs363853
hapmaprs363853
1000 genomesrs363853
hgdprs363853
ensemblrs363853
gopubmedrs363853
geneviewrs363853
scholarrs363853
googlers363853
pharmgkbrs363853
gwascentralrs363853
openSNPrs363853
23andMers363853
23andMe allrs363853
SNP Nexus

SNPshotrs363853
SNPdbers363853
MSV3drs363853
GWAS Ctlgrs363853
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs363853(C;C)
Alt rs363853(C;C)
Reference rs363853(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48888489A>G
CLNSRC ClinVar
CLNACC RCV000035222.2,