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rs1060501069

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501069(A;A)
Make rs1060501069(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48456729
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501069
dbSNP (old)rs1060501069
ClinGenrs1060501069
ebirs1060501069
HLIrs1060501069
Exacrs1060501069
Gnomadrs1060501069
Varsomers1060501069
Maprs1060501069
PheGenIrs1060501069
Biobankrs1060501069
1000 genomesrs1060501069
hgdprs1060501069
ensemblrs1060501069
gopubmedrs1060501069
geneviewrs1060501069
scholarrs1060501069
googlers1060501069
pharmgkbrs1060501069
gwascentralrs1060501069
openSNPrs1060501069
23andMers1060501069
23andMe allrs1060501069
SNPshotrs1060501069
SNPdbers1060501069
MSV3drs1060501069
GWAS Ctlgrs1060501069
Max Magnitude0
ClinVar
Risk rs1060501069(A;A)
Alt rs1060501069(A;A)
Reference Rs1060501069(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48748926C>T
CLNSRC
CLNACC RCV000467273.1,