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rs1060501092

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501092(A;A)
Make rs1060501092(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48497265
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501092
dbSNP (old)rs1060501092
ClinGenrs1060501092
ebirs1060501092
HLIrs1060501092
Exacrs1060501092
Gnomadrs1060501092
Varsomers1060501092
Maprs1060501092
PheGenIrs1060501092
Biobankrs1060501092
1000 genomesrs1060501092
hgdprs1060501092
ensemblrs1060501092
gopubmedrs1060501092
geneviewrs1060501092
scholarrs1060501092
googlers1060501092
pharmgkbrs1060501092
gwascentralrs1060501092
openSNPrs1060501092
23andMers1060501092
23andMe allrs1060501092
SNPshotrs1060501092
SNPdbers1060501092
MSV3drs1060501092
GWAS Ctlgrs1060501092
Max Magnitude0
ClinVar
Risk rs1060501092(A;A)
Alt rs1060501092(A;A)
Reference Rs1060501092(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48789462C>T
CLNSRC
CLNACC RCV000466775.1,