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rs1060501013

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501013(-;-)
Make rs1060501013(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48488410
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501013
dbSNP (old)rs1060501013
ClinGenrs1060501013
ebirs1060501013
HLIrs1060501013
Exacrs1060501013
Gnomadrs1060501013
Varsomers1060501013
Maprs1060501013
PheGenIrs1060501013
Biobankrs1060501013
1000 genomesrs1060501013
hgdprs1060501013
ensemblrs1060501013
gopubmedrs1060501013
geneviewrs1060501013
scholarrs1060501013
googlers1060501013
pharmgkbrs1060501013
gwascentralrs1060501013
openSNPrs1060501013
23andMers1060501013
23andMe allrs1060501013
SNPshotrs1060501013
SNPdbers1060501013
MSV3drs1060501013
GWAS Ctlgrs1060501013
Max Magnitude0
ClinVar
Risk rs1060501013(-;-)
Alt rs1060501013(-;-)
Reference Rs1060501013(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48780607delC
CLNSRC
CLNACC RCV000462968.1,