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rs1060501040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501040(A;A)
Make rs1060501040(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48488411
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501040
dbSNP (old)rs1060501040
ClinGenrs1060501040
ebirs1060501040
HLIrs1060501040
Exacrs1060501040
Gnomadrs1060501040
Varsomers1060501040
LitVarrs1060501040
Maprs1060501040
PheGenIrs1060501040
Biobankrs1060501040
1000 genomesrs1060501040
hgdprs1060501040
ensemblrs1060501040
gopubmedrs1060501040
geneviewrs1060501040
scholarrs1060501040
googlers1060501040
pharmgkbrs1060501040
gwascentralrs1060501040
openSNPrs1060501040
23andMers1060501040
23andMe allrs1060501040
SNPshotrs1060501040
SNPdbers1060501040
MSV3drs1060501040
GWAS Ctlgrs1060501040
Max Magnitude0
ClinVar
Risk rs1060501040(A;A)
Alt rs1060501040(A;A)
Reference Rs1060501040(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48780608A>T
CLNSRC
CLNACC RCV000476172.1,