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rs1060501075

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501075(A;A)
Make rs1060501075(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48487356
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501075
dbSNP (old)rs1060501075
ClinGenrs1060501075
ebirs1060501075
HLIrs1060501075
Exacrs1060501075
Gnomadrs1060501075
Varsomers1060501075
LitVarrs1060501075
Maprs1060501075
PheGenIrs1060501075
Biobankrs1060501075
1000 genomesrs1060501075
hgdprs1060501075
ensemblrs1060501075
gopubmedrs1060501075
geneviewrs1060501075
scholarrs1060501075
googlers1060501075
pharmgkbrs1060501075
gwascentralrs1060501075
openSNPrs1060501075
23andMers1060501075
23andMe allrs1060501075
SNPshotrs1060501075
SNPdbers1060501075
MSV3drs1060501075
GWAS Ctlgrs1060501075
Max Magnitude0
ClinVar
Risk rs1060501075(A;A)
Alt rs1060501075(A;A)
Reference Rs1060501075(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48779553C>T
CLNSRC
CLNACC RCV000476463.1,