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rs1060501052

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501052(A;G)
Make rs1060501052(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48495590
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501052
dbSNP (old)rs1060501052
ClinGenrs1060501052
ebirs1060501052
HLIrs1060501052
Exacrs1060501052
Gnomadrs1060501052
Varsomers1060501052
LitVarrs1060501052
Maprs1060501052
PheGenIrs1060501052
Biobankrs1060501052
1000 genomesrs1060501052
hgdprs1060501052
ensemblrs1060501052
gopubmedrs1060501052
geneviewrs1060501052
scholarrs1060501052
googlers1060501052
pharmgkbrs1060501052
gwascentralrs1060501052
openSNPrs1060501052
23andMers1060501052
23andMe allrs1060501052
SNPshotrs1060501052
SNPdbers1060501052
MSV3drs1060501052
GWAS Ctlgrs1060501052
Max Magnitude0
ClinVar
Risk rs1060501052(G;G)
Alt rs1060501052(G;G)
Reference Rs1060501052(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48787787T>C
CLNSRC
CLNACC RCV000457150.1,