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rs193922218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922218(C;T)
Make rs193922218(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48644714
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922218
ebirs193922218
HLIrs193922218
Exacrs193922218
Varsomers193922218
Maprs193922218
PheGenIrs193922218
hapmaprs193922218
1000 genomesrs193922218
hgdprs193922218
ensemblrs193922218
gopubmedrs193922218
geneviewrs193922218
scholarrs193922218
googlers193922218
pharmgkbrs193922218
gwascentralrs193922218
openSNPrs193922218
23andMers193922218
23andMe allrs193922218
SNP Nexus

SNPshotrs193922218
SNPdbers193922218
MSV3drs193922218
GWAS Ctlgrs193922218
Max Magnitude0
ClinVar
Risk rs193922218(T;T)
Alt rs193922218(T;T)
Reference rs193922218(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48936911G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029756.1,