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rs1060501070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501070(A;A)
Make rs1060501070(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48463099
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501070
dbSNP (old)rs1060501070
ClinGenrs1060501070
ebirs1060501070
HLIrs1060501070
Exacrs1060501070
Gnomadrs1060501070
Varsomers1060501070
Maprs1060501070
PheGenIrs1060501070
Biobankrs1060501070
1000 genomesrs1060501070
hgdprs1060501070
ensemblrs1060501070
gopubmedrs1060501070
geneviewrs1060501070
scholarrs1060501070
googlers1060501070
pharmgkbrs1060501070
gwascentralrs1060501070
openSNPrs1060501070
23andMers1060501070
23andMe allrs1060501070
SNPshotrs1060501070
SNPdbers1060501070
MSV3drs1060501070
GWAS Ctlgrs1060501070
Max Magnitude0
ClinVar
Risk rs1060501070(A;A)
Alt rs1060501070(A;A)
Reference Rs1060501070(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48755296C>T
CLNSRC
CLNACC RCV000474273.1,