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rs1060501019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501019(G;G)
Make rs1060501019(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48534131
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501019
dbSNP (old)rs1060501019
ClinGenrs1060501019
ebirs1060501019
HLIrs1060501019
Exacrs1060501019
Gnomadrs1060501019
Varsomers1060501019
Maprs1060501019
PheGenIrs1060501019
Biobankrs1060501019
1000 genomesrs1060501019
hgdprs1060501019
ensemblrs1060501019
gopubmedrs1060501019
geneviewrs1060501019
scholarrs1060501019
googlers1060501019
pharmgkbrs1060501019
gwascentralrs1060501019
openSNPrs1060501019
23andMers1060501019
23andMe allrs1060501019
SNPshotrs1060501019
SNPdbers1060501019
MSV3drs1060501019
GWAS Ctlgrs1060501019
Max Magnitude0
ClinVar
Risk rs1060501019(G;G)
Alt rs1060501019(G;G)
Reference Rs1060501019(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48826328A>C
CLNSRC
CLNACC RCV000465059.1, RCV000493552.1,