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rs1060501082

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501082(C;T)
Make rs1060501082(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48503811
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501082
dbSNP (old)rs1060501082
ClinGenrs1060501082
ebirs1060501082
HLIrs1060501082
Exacrs1060501082
Gnomadrs1060501082
Varsomers1060501082
Maprs1060501082
PheGenIrs1060501082
Biobankrs1060501082
1000 genomesrs1060501082
hgdprs1060501082
ensemblrs1060501082
gopubmedrs1060501082
geneviewrs1060501082
scholarrs1060501082
googlers1060501082
pharmgkbrs1060501082
gwascentralrs1060501082
openSNPrs1060501082
23andMers1060501082
23andMe allrs1060501082
SNPshotrs1060501082
SNPdbers1060501082
MSV3drs1060501082
GWAS Ctlgrs1060501082
Max Magnitude0
ClinVar
Risk rs1060501082(T;T)
Alt rs1060501082(T;T)
Reference Rs1060501082(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48796008G>A
CLNSRC
CLNACC RCV000465213.1,