Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057518912

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518912(-;-)
Make rs1057518912(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48456643
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518912
dbSNP (old)rs1057518912
ClinGenrs1057518912
ebirs1057518912
HLIrs1057518912
Exacrs1057518912
Gnomadrs1057518912
Varsomers1057518912
Maprs1057518912
PheGenIrs1057518912
Biobankrs1057518912
1000 genomesrs1057518912
hgdprs1057518912
ensemblrs1057518912
gopubmedrs1057518912
geneviewrs1057518912
scholarrs1057518912
googlers1057518912
pharmgkbrs1057518912
gwascentralrs1057518912
openSNPrs1057518912
23andMers1057518912
23andMe allrs1057518912
SNPshotrs1057518912
SNPdbers1057518912
MSV3drs1057518912
GWAS Ctlgrs1057518912
Max Magnitude0
ClinVar
Risk rs1057518912(-;-)
Alt rs1057518912(-;-)
Reference Rs1057518912(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48748840delA
CLNSRC
CLNACC RCV000414847.1,