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rs1060501036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501036(G;T)
Make rs1060501036(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48513599
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501036
dbSNP (classic)rs1060501036
ClinGenrs1060501036
ebirs1060501036
HLIrs1060501036
Exacrs1060501036
Gnomadrs1060501036
Varsomers1060501036
LitVarrs1060501036
Maprs1060501036
PheGenIrs1060501036
Biobankrs1060501036
1000 genomesrs1060501036
hgdprs1060501036
ensemblrs1060501036
geneviewrs1060501036
scholarrs1060501036
googlers1060501036
pharmgkbrs1060501036
gwascentralrs1060501036
openSNPrs1060501036
23andMers1060501036
SNPshotrs1060501036
SNPdbers1060501036
MSV3drs1060501036
GWAS Ctlgrs1060501036
Max Magnitude0
ClinVar
Risk rs1060501036(T;T)
Alt rs1060501036(T;T)
Reference Rs1060501036(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48805796C>A
CLNSRC
CLNACC RCV000468015.1,