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rs1060501043

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1060501043(-;-)
Make rs1060501043(-;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48470723
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501043
dbSNP (old)rs1060501043
ClinGenrs1060501043
ebirs1060501043
HLIrs1060501043
Exacrs1060501043
Gnomadrs1060501043
Varsomers1060501043
Maprs1060501043
PheGenIrs1060501043
Biobankrs1060501043
1000 genomesrs1060501043
hgdprs1060501043
ensemblrs1060501043
gopubmedrs1060501043
geneviewrs1060501043
scholarrs1060501043
googlers1060501043
pharmgkbrs1060501043
gwascentralrs1060501043
openSNPrs1060501043
23andMers1060501043
23andMe allrs1060501043
SNPshotrs1060501043
SNPdbers1060501043
MSV3drs1060501043
GWAS Ctlgrs1060501043
Max Magnitude0
ClinVar
Risk rs1060501043(-;-)
Alt rs1060501043(-;-)
Reference Rs1060501043(GT;GT)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48762920_48762921delAC
CLNSRC
CLNACC RCV000461018.1,