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rs1057519502

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519502(C;T)
Make rs1057519502(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48495237
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057519502
dbSNP (old)rs1057519502
ClinGenrs1057519502
ebirs1057519502
HLIrs1057519502
Exacrs1057519502
Gnomadrs1057519502
Varsomers1057519502
Maprs1057519502
PheGenIrs1057519502
Biobankrs1057519502
1000 genomesrs1057519502
hgdprs1057519502
ensemblrs1057519502
gopubmedrs1057519502
geneviewrs1057519502
scholarrs1057519502
googlers1057519502
pharmgkbrs1057519502
gwascentralrs1057519502
openSNPrs1057519502
23andMers1057519502
23andMe allrs1057519502
SNPshotrs1057519502
SNPdbers1057519502
MSV3drs1057519502
GWAS Ctlgrs1057519502
Max Magnitude0
ClinVar
Risk rs1057519502(T;T)
Alt rs1057519502(T;T)
Reference Rs1057519502(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48787434G>A
CLNSRC
CLNACC RCV000416509.1,