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rs1060501017

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501017(G;G)
Make rs1060501017(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48505136
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501017
dbSNP (old)rs1060501017
ClinGenrs1060501017
ebirs1060501017
HLIrs1060501017
Exacrs1060501017
Gnomadrs1060501017
Varsomers1060501017
Maprs1060501017
PheGenIrs1060501017
Biobankrs1060501017
1000 genomesrs1060501017
hgdprs1060501017
ensemblrs1060501017
gopubmedrs1060501017
geneviewrs1060501017
scholarrs1060501017
googlers1060501017
pharmgkbrs1060501017
gwascentralrs1060501017
openSNPrs1060501017
23andMers1060501017
23andMe allrs1060501017
SNPshotrs1060501017
SNPdbers1060501017
MSV3drs1060501017
GWAS Ctlgrs1060501017
Max Magnitude0
ClinVar
Risk rs1060501017(G;G)
Alt rs1060501017(G;G)
Reference Rs1060501017(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48797333A>C
CLNSRC
CLNACC RCV000474956.1,