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rs1060501076

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501076(G;T)
Make rs1060501076(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48468526
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501076
dbSNP (old)rs1060501076
ClinGenrs1060501076
ebirs1060501076
HLIrs1060501076
Exacrs1060501076
Gnomadrs1060501076
Varsomers1060501076
Maprs1060501076
PheGenIrs1060501076
Biobankrs1060501076
1000 genomesrs1060501076
hgdprs1060501076
ensemblrs1060501076
gopubmedrs1060501076
geneviewrs1060501076
scholarrs1060501076
googlers1060501076
pharmgkbrs1060501076
gwascentralrs1060501076
openSNPrs1060501076
23andMers1060501076
23andMe allrs1060501076
SNPshotrs1060501076
SNPdbers1060501076
MSV3drs1060501076
GWAS Ctlgrs1060501076
Max Magnitude0
ClinVar
Risk rs1060501076(T;T)
Alt rs1060501076(T;T)
Reference Rs1060501076(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48760723C>A
CLNSRC
CLNACC RCV000469828.1,