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rs1060501074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501074(A;A)
Make rs1060501074(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48468462
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501074
dbSNP (classic)rs1060501074
ClinGenrs1060501074
ebirs1060501074
HLIrs1060501074
Exacrs1060501074
Gnomadrs1060501074
Varsomers1060501074
LitVarrs1060501074
Maprs1060501074
PheGenIrs1060501074
Biobankrs1060501074
1000 genomesrs1060501074
hgdprs1060501074
ensemblrs1060501074
geneviewrs1060501074
scholarrs1060501074
googlers1060501074
pharmgkbrs1060501074
gwascentralrs1060501074
openSNPrs1060501074
23andMers1060501074
SNPshotrs1060501074
SNPdbers1060501074
MSV3drs1060501074
GWAS Ctlgrs1060501074
Max Magnitude0
ClinVar
Risk rs1060501074(A;A)
Alt rs1060501074(A;A)
Reference Rs1060501074(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48760659C>T
CLNSRC
CLNACC RCV000468089.1, RCV000480333.1,