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rs193922215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922215(C;C)
Make rs193922215(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48537791
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922215
ebirs193922215
HLIrs193922215
Exacrs193922215
Varsomers193922215
Maprs193922215
PheGenIrs193922215
hapmaprs193922215
1000 genomesrs193922215
hgdprs193922215
ensemblrs193922215
gopubmedrs193922215
geneviewrs193922215
scholarrs193922215
googlers193922215
pharmgkbrs193922215
gwascentralrs193922215
openSNPrs193922215
23andMers193922215
23andMe allrs193922215
SNP Nexus

SNPshotrs193922215
SNPdbers193922215
MSV3drs193922215
GWAS Ctlgrs193922215
Max Magnitude0
ClinVar
Risk rs193922215(C;C)
Alt rs193922215(C;C)
Reference rs193922215(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48829988A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029753.1,