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rs1060501054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501054(A;A)
Make rs1060501054(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48432910
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501054
dbSNP (old)rs1060501054
ClinGenrs1060501054
ebirs1060501054
HLIrs1060501054
Exacrs1060501054
Gnomadrs1060501054
Varsomers1060501054
LitVarrs1060501054
Maprs1060501054
PheGenIrs1060501054
Biobankrs1060501054
1000 genomesrs1060501054
hgdprs1060501054
ensemblrs1060501054
gopubmedrs1060501054
geneviewrs1060501054
scholarrs1060501054
googlers1060501054
pharmgkbrs1060501054
gwascentralrs1060501054
openSNPrs1060501054
23andMers1060501054
23andMe allrs1060501054
SNPshotrs1060501054
SNPdbers1060501054
MSV3drs1060501054
GWAS Ctlgrs1060501054
Max Magnitude0
ClinVar
Risk rs1060501054(A;A)
Alt rs1060501054(A;A)
Reference Rs1060501054(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48725107C>T
CLNSRC
CLNACC RCV000470389.1,