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rs1060501026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501026(C;C)
Make rs1060501026(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48474299
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501026
dbSNP (classic)rs1060501026
ClinGenrs1060501026
ebirs1060501026
HLIrs1060501026
Exacrs1060501026
Gnomadrs1060501026
Varsomers1060501026
LitVarrs1060501026
Maprs1060501026
PheGenIrs1060501026
Biobankrs1060501026
1000 genomesrs1060501026
hgdprs1060501026
ensemblrs1060501026
geneviewrs1060501026
scholarrs1060501026
googlers1060501026
pharmgkbrs1060501026
gwascentralrs1060501026
openSNPrs1060501026
23andMers1060501026
23andMe allrs1060501026
SNPshotrs1060501026
SNPdbers1060501026
MSV3drs1060501026
GWAS Ctlgrs1060501026
Max Magnitude0
ClinVar
Risk rs1060501026(C;C)
Alt rs1060501026(C;C)
Reference Rs1060501026(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48766496C>G
CLNSRC
CLNACC RCV000467201.1,