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rs1060501035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501035(C;T)
Make rs1060501035(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48537755
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501035
dbSNP (old)rs1060501035
ClinGenrs1060501035
ebirs1060501035
HLIrs1060501035
Exacrs1060501035
Gnomadrs1060501035
Varsomers1060501035
Maprs1060501035
PheGenIrs1060501035
Biobankrs1060501035
1000 genomesrs1060501035
hgdprs1060501035
ensemblrs1060501035
gopubmedrs1060501035
geneviewrs1060501035
scholarrs1060501035
googlers1060501035
pharmgkbrs1060501035
gwascentralrs1060501035
openSNPrs1060501035
23andMers1060501035
23andMe allrs1060501035
SNPshotrs1060501035
SNPdbers1060501035
MSV3drs1060501035
GWAS Ctlgrs1060501035
Max Magnitude0
ClinVar
Risk rs1060501035(T;T)
Alt rs1060501035(T;T)
Reference Rs1060501035(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48829952G>A
CLNSRC
CLNACC RCV000461201.1,