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rs1060501077

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501077(A;A)
Make rs1060501077(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48422056
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501077
dbSNP (old)rs1060501077
ClinGenrs1060501077
ebirs1060501077
HLIrs1060501077
Exacrs1060501077
Gnomadrs1060501077
Varsomers1060501077
Maprs1060501077
PheGenIrs1060501077
Biobankrs1060501077
1000 genomesrs1060501077
hgdprs1060501077
ensemblrs1060501077
gopubmedrs1060501077
geneviewrs1060501077
scholarrs1060501077
googlers1060501077
pharmgkbrs1060501077
gwascentralrs1060501077
openSNPrs1060501077
23andMers1060501077
23andMe allrs1060501077
SNPshotrs1060501077
SNPdbers1060501077
MSV3drs1060501077
GWAS Ctlgrs1060501077
Max Magnitude0
ClinVar
Risk rs1060501077(A;A)
Alt rs1060501077(A;A)
Reference Rs1060501077(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48714253C>T
CLNSRC
CLNACC RCV000457685.1,