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rs1060501027

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1060501027(-;A)
Make rs1060501027(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48503871
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501027
dbSNP (old)rs1060501027
ClinGenrs1060501027
ebirs1060501027
HLIrs1060501027
Exacrs1060501027
Gnomadrs1060501027
Varsomers1060501027
Maprs1060501027
PheGenIrs1060501027
Biobankrs1060501027
1000 genomesrs1060501027
hgdprs1060501027
ensemblrs1060501027
gopubmedrs1060501027
geneviewrs1060501027
scholarrs1060501027
googlers1060501027
pharmgkbrs1060501027
gwascentralrs1060501027
openSNPrs1060501027
23andMers1060501027
23andMe allrs1060501027
SNPshotrs1060501027
SNPdbers1060501027
MSV3drs1060501027
GWAS Ctlgrs1060501027
Max Magnitude0
ClinVar
Risk rs1060501027(A;A)
Alt rs1060501027(A;A)
Reference Rs1060501027(-;-)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48796068_48796069insT
CLNSRC
CLNACC RCV000475833.1,