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rs112660651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs112660651(G;T)
Make rs112660651(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48610808
GeneFBN1
is asnp
is mentioned by
dbSNPrs112660651
dbSNP (classic)rs112660651
ClinGenrs112660651
ebirs112660651
HLIrs112660651
Exacrs112660651
Gnomadrs112660651
Varsomers112660651
LitVarrs112660651
Maprs112660651
PheGenIrs112660651
Biobankrs112660651
1000 genomesrs112660651
hgdprs112660651
ensemblrs112660651
geneviewrs112660651
scholarrs112660651
googlers112660651
pharmgkbrs112660651
gwascentralrs112660651
openSNPrs112660651
23andMers112660651
SNPshotrs112660651
SNPdbers112660651
MSV3drs112660651
GWAS Ctlgrs112660651
Max Magnitude0
ClinVar
Risk rs112660651(A;A) rs112660651(C;C) rs112660651(T;T)
Alt rs112660651(A;A) rs112660651(C;C) rs112660651(T;T)
Reference Rs112660651(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48903005C>G; NC_000015.9:g.48903005C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029715.1, RCV000181643.2,