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rs193922188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922188(C;C)
Make rs193922188(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48496150
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922188
ebirs193922188
HLIrs193922188
Exacrs193922188
Varsomers193922188
Maprs193922188
PheGenIrs193922188
hapmaprs193922188
1000 genomesrs193922188
hgdprs193922188
ensemblrs193922188
gopubmedrs193922188
geneviewrs193922188
scholarrs193922188
googlers193922188
pharmgkbrs193922188
gwascentralrs193922188
openSNPrs193922188
23andMers193922188
23andMe allrs193922188
SNP Nexus

SNPshotrs193922188
SNPdbers193922188
MSV3drs193922188
GWAS Ctlgrs193922188
Max Magnitude0
ClinVar
Risk rs193922188(C;C)
Alt rs193922188(C;C)
Reference rs193922188(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48788347C>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029707.1,