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rs1060501059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501059(-;-)
Make rs1060501059(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48434669
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501059
dbSNP (classic)rs1060501059
ClinGenrs1060501059
ebirs1060501059
HLIrs1060501059
Exacrs1060501059
Gnomadrs1060501059
Varsomers1060501059
LitVarrs1060501059
Maprs1060501059
PheGenIrs1060501059
Biobankrs1060501059
1000 genomesrs1060501059
hgdprs1060501059
ensemblrs1060501059
geneviewrs1060501059
scholarrs1060501059
googlers1060501059
pharmgkbrs1060501059
gwascentralrs1060501059
openSNPrs1060501059
23andMers1060501059
SNPshotrs1060501059
SNPdbers1060501059
MSV3drs1060501059
GWAS Ctlgrs1060501059
Max Magnitude0
ClinVar
Risk rs1060501059(-;-)
Alt rs1060501059(-;-)
Reference Rs1060501059(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48726866delA
CLNSRC
CLNACC RCV000474077.1,