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rs1060501048

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501048(A;A)
Make rs1060501048(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48437918
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501048
dbSNP (old)rs1060501048
ClinGenrs1060501048
ebirs1060501048
HLIrs1060501048
Exacrs1060501048
Gnomadrs1060501048
Varsomers1060501048
Maprs1060501048
PheGenIrs1060501048
Biobankrs1060501048
1000 genomesrs1060501048
hgdprs1060501048
ensemblrs1060501048
gopubmedrs1060501048
geneviewrs1060501048
scholarrs1060501048
googlers1060501048
pharmgkbrs1060501048
gwascentralrs1060501048
openSNPrs1060501048
23andMers1060501048
23andMe allrs1060501048
SNPshotrs1060501048
SNPdbers1060501048
MSV3drs1060501048
GWAS Ctlgrs1060501048
Max Magnitude0
ClinVar
Risk rs1060501048(A;A)
Alt rs1060501048(A;A)
Reference Rs1060501048(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48730115C>T
CLNSRC
CLNACC RCV000462921.1,