Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060501022

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501022(C;C)
Make rs1060501022(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48496214
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501022
dbSNP (old)rs1060501022
ClinGenrs1060501022
ebirs1060501022
HLIrs1060501022
Exacrs1060501022
Gnomadrs1060501022
Varsomers1060501022
Maprs1060501022
PheGenIrs1060501022
Biobankrs1060501022
1000 genomesrs1060501022
hgdprs1060501022
ensemblrs1060501022
gopubmedrs1060501022
geneviewrs1060501022
scholarrs1060501022
googlers1060501022
pharmgkbrs1060501022
gwascentralrs1060501022
openSNPrs1060501022
23andMers1060501022
23andMe allrs1060501022
SNPshotrs1060501022
SNPdbers1060501022
MSV3drs1060501022
GWAS Ctlgrs1060501022
Max Magnitude0
ClinVar
Risk rs1060501022(C;C)
Alt rs1060501022(C;C)
Reference Rs1060501022(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48788411A>G
CLNSRC
CLNACC RCV000474029.1,