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rs193922193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922193(C;C)
Make rs193922193(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48495123
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922193
ebirs193922193
HLIrs193922193
Exacrs193922193
Varsomers193922193
Maprs193922193
PheGenIrs193922193
hapmaprs193922193
1000 genomesrs193922193
hgdprs193922193
ensemblrs193922193
gopubmedrs193922193
geneviewrs193922193
scholarrs193922193
googlers193922193
pharmgkbrs193922193
gwascentralrs193922193
openSNPrs193922193
23andMers193922193
23andMe allrs193922193
SNP Nexus

SNPshotrs193922193
SNPdbers193922193
MSV3drs193922193
GWAS Ctlgrs193922193
Max Magnitude0
ClinVar
Risk rs193922193(C;C)
Alt rs193922193(C;C)
Reference rs193922193(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48787320C>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029716.1,