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rs1060501090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501090(-;-)
Make rs1060501090(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48481726
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501090
dbSNP (classic)rs1060501090
ClinGenrs1060501090
ebirs1060501090
HLIrs1060501090
Exacrs1060501090
Gnomadrs1060501090
Varsomers1060501090
LitVarrs1060501090
Maprs1060501090
PheGenIrs1060501090
Biobankrs1060501090
1000 genomesrs1060501090
hgdprs1060501090
ensemblrs1060501090
geneviewrs1060501090
scholarrs1060501090
googlers1060501090
pharmgkbrs1060501090
gwascentralrs1060501090
openSNPrs1060501090
23andMers1060501090
SNPshotrs1060501090
SNPdbers1060501090
MSV3drs1060501090
GWAS Ctlgrs1060501090
Max Magnitude0
ClinVar
Risk rs1060501090(-;-)
Alt rs1060501090(-;-)
Reference Rs1060501090(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48773923delT
CLNSRC
CLNACC RCV000463203.1,