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rs193922230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922230(A;C)
Make rs193922230(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48425840
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922230
ebirs193922230
HLIrs193922230
Exacrs193922230
Varsomers193922230
Maprs193922230
PheGenIrs193922230
hapmaprs193922230
1000 genomesrs193922230
hgdprs193922230
ensemblrs193922230
gopubmedrs193922230
geneviewrs193922230
scholarrs193922230
googlers193922230
pharmgkbrs193922230
gwascentralrs193922230
openSNPrs193922230
23andMers193922230
23andMe allrs193922230
SNP Nexus

SNPshotrs193922230
SNPdbers193922230
MSV3drs193922230
GWAS Ctlgrs193922230
Max Magnitude0
ClinVar
Risk rs193922230(C,G;C,G)
Alt rs193922230(C,G;C,G)
Reference rs193922230(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48718037T>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029774.1,