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rs1060501095

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501095(A;A)
Make rs1060501095(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48441725
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501095
dbSNP (old)rs1060501095
ClinGenrs1060501095
ebirs1060501095
HLIrs1060501095
Exacrs1060501095
Gnomadrs1060501095
Varsomers1060501095
Maprs1060501095
PheGenIrs1060501095
Biobankrs1060501095
1000 genomesrs1060501095
hgdprs1060501095
ensemblrs1060501095
gopubmedrs1060501095
geneviewrs1060501095
scholarrs1060501095
googlers1060501095
pharmgkbrs1060501095
gwascentralrs1060501095
openSNPrs1060501095
23andMers1060501095
23andMe allrs1060501095
SNPshotrs1060501095
SNPdbers1060501095
MSV3drs1060501095
GWAS Ctlgrs1060501095
Max Magnitude0
ClinVar
Risk rs1060501095(A;A)
Alt rs1060501095(A;A)
Reference Rs1060501095(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48733922G>T
CLNSRC
CLNACC RCV000467032.1,