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rs1060501053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501053(A;G)
Make rs1060501053(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48446824
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501053
dbSNP (old)rs1060501053
ClinGenrs1060501053
ebirs1060501053
HLIrs1060501053
Exacrs1060501053
Gnomadrs1060501053
Varsomers1060501053
Maprs1060501053
PheGenIrs1060501053
Biobankrs1060501053
1000 genomesrs1060501053
hgdprs1060501053
ensemblrs1060501053
gopubmedrs1060501053
geneviewrs1060501053
scholarrs1060501053
googlers1060501053
pharmgkbrs1060501053
gwascentralrs1060501053
openSNPrs1060501053
23andMers1060501053
23andMe allrs1060501053
SNPshotrs1060501053
SNPdbers1060501053
MSV3drs1060501053
GWAS Ctlgrs1060501053
Max Magnitude0
ClinVar
Risk rs1060501053(G;G)
Alt rs1060501053(G;G)
Reference Rs1060501053(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48739021T>C
CLNSRC
CLNACC RCV000466451.1,