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

rs1060501044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501044(G;T)
Make rs1060501044(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48437872
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501044
dbSNP (old)rs1060501044
ClinGenrs1060501044
ebirs1060501044
HLIrs1060501044
Exacrs1060501044
Gnomadrs1060501044
Varsomers1060501044
LitVarrs1060501044
Maprs1060501044
PheGenIrs1060501044
Biobankrs1060501044
1000 genomesrs1060501044
hgdprs1060501044
ensemblrs1060501044
gopubmedrs1060501044
geneviewrs1060501044
scholarrs1060501044
googlers1060501044
pharmgkbrs1060501044
gwascentralrs1060501044
openSNPrs1060501044
23andMers1060501044
23andMe allrs1060501044
SNPshotrs1060501044
SNPdbers1060501044
MSV3drs1060501044
GWAS Ctlgrs1060501044
Max Magnitude0
ClinVar
Risk rs1060501044(T;T)
Alt rs1060501044(T;T)
Reference Rs1060501044(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48730069C>A
CLNSRC
CLNACC RCV000474831.1,