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rs1060501016

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501016(A;A)
Make rs1060501016(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48428395
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501016
dbSNP (old)rs1060501016
ClinGenrs1060501016
ebirs1060501016
HLIrs1060501016
Exacrs1060501016
Gnomadrs1060501016
Varsomers1060501016
Maprs1060501016
PheGenIrs1060501016
Biobankrs1060501016
1000 genomesrs1060501016
hgdprs1060501016
ensemblrs1060501016
gopubmedrs1060501016
geneviewrs1060501016
scholarrs1060501016
googlers1060501016
pharmgkbrs1060501016
gwascentralrs1060501016
openSNPrs1060501016
23andMers1060501016
23andMe allrs1060501016
SNPshotrs1060501016
SNPdbers1060501016
MSV3drs1060501016
GWAS Ctlgrs1060501016
Max Magnitude0
ClinVar
Risk rs1060501016(A;A)
Alt rs1060501016(A;A)
Reference Rs1060501016(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48720592A>T
CLNSRC
CLNACC RCV000466835.1,