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rs1060501078

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501078(A;A)
Make rs1060501078(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48505070
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501078
dbSNP (old)rs1060501078
ClinGenrs1060501078
ebirs1060501078
HLIrs1060501078
Exacrs1060501078
Gnomadrs1060501078
Varsomers1060501078
Maprs1060501078
PheGenIrs1060501078
Biobankrs1060501078
1000 genomesrs1060501078
hgdprs1060501078
ensemblrs1060501078
gopubmedrs1060501078
geneviewrs1060501078
scholarrs1060501078
googlers1060501078
pharmgkbrs1060501078
gwascentralrs1060501078
openSNPrs1060501078
23andMers1060501078
23andMe allrs1060501078
SNPshotrs1060501078
SNPdbers1060501078
MSV3drs1060501078
GWAS Ctlgrs1060501078
Max Magnitude0
ClinVar
Risk rs1060501078(A;A)
Alt rs1060501078(A;A)
Reference Rs1060501078(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48797267A>T
CLNSRC
CLNACC RCV000456810.1,