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rs1060501034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501034(A;A)
Make rs1060501034(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48436986
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501034
dbSNP (old)rs1060501034
ClinGenrs1060501034
ebirs1060501034
HLIrs1060501034
Exacrs1060501034
Gnomadrs1060501034
Varsomers1060501034
LitVarrs1060501034
Maprs1060501034
PheGenIrs1060501034
Biobankrs1060501034
1000 genomesrs1060501034
hgdprs1060501034
ensemblrs1060501034
gopubmedrs1060501034
geneviewrs1060501034
scholarrs1060501034
googlers1060501034
pharmgkbrs1060501034
gwascentralrs1060501034
openSNPrs1060501034
23andMers1060501034
23andMe allrs1060501034
SNPshotrs1060501034
SNPdbers1060501034
MSV3drs1060501034
GWAS Ctlgrs1060501034
Max Magnitude0
ClinVar
Risk rs1060501034(A;A)
Alt rs1060501034(A;A)
Reference Rs1060501034(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48729183A>T
CLNSRC
CLNACC RCV000473900.1,