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rs1060501042

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1060501042(-;A)
Make rs1060501042(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48421606
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501042
dbSNP (old)rs1060501042
ClinGenrs1060501042
ebirs1060501042
HLIrs1060501042
Exacrs1060501042
Gnomadrs1060501042
Varsomers1060501042
Maprs1060501042
PheGenIrs1060501042
Biobankrs1060501042
1000 genomesrs1060501042
hgdprs1060501042
ensemblrs1060501042
gopubmedrs1060501042
geneviewrs1060501042
scholarrs1060501042
googlers1060501042
pharmgkbrs1060501042
gwascentralrs1060501042
openSNPrs1060501042
23andMers1060501042
23andMe allrs1060501042
SNPshotrs1060501042
SNPdbers1060501042
MSV3drs1060501042
GWAS Ctlgrs1060501042
Max Magnitude0
ClinVar
Risk rs1060501042(A;A)
Alt rs1060501042(A;A)
Reference Rs1060501042(-;-)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48713803_48713804insT
CLNSRC
CLNACC RCV000474420.1,