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rs112642323

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112642323(C;G)
Make rs112642323(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48412647
GeneFBN1
is asnp
is mentioned by
dbSNPrs112642323
ebirs112642323
HLIrs112642323
Exacrs112642323
Varsomers112642323
Maprs112642323
PheGenIrs112642323
hapmaprs112642323
1000 genomesrs112642323
hgdprs112642323
ensemblrs112642323
gopubmedrs112642323
geneviewrs112642323
scholarrs112642323
googlers112642323
pharmgkbrs112642323
gwascentralrs112642323
openSNPrs112642323
23andMers112642323
23andMe allrs112642323
SNP Nexus

SNPshotrs112642323
SNPdbers112642323
MSV3drs112642323
GWAS Ctlgrs112642323
Max Magnitude0
ClinVar
Risk rs112642323(G,T;G,T)
Alt rs112642323(G,T;G,T)
Reference rs112642323(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48704844G>C
CLNSRC
CLNACC RCV000208411.1,