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rs1060501060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501060(-;-)
Make rs1060501060(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48425401
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501060
dbSNP (old)rs1060501060
ClinGenrs1060501060
ebirs1060501060
HLIrs1060501060
Exacrs1060501060
Gnomadrs1060501060
Varsomers1060501060
LitVarrs1060501060
Maprs1060501060
PheGenIrs1060501060
Biobankrs1060501060
1000 genomesrs1060501060
hgdprs1060501060
ensemblrs1060501060
gopubmedrs1060501060
geneviewrs1060501060
scholarrs1060501060
googlers1060501060
pharmgkbrs1060501060
gwascentralrs1060501060
openSNPrs1060501060
23andMers1060501060
23andMe allrs1060501060
SNPshotrs1060501060
SNPdbers1060501060
MSV3drs1060501060
GWAS Ctlgrs1060501060
Max Magnitude0
ClinVar
Risk rs1060501060(-;-)
Alt rs1060501060(-;-)
Reference Rs1060501060(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48717598delT
CLNSRC
CLNACC RCV000460769.1,