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rs193922189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922189(C;C)
Make rs193922189(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48495529
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922189
ebirs193922189
HLIrs193922189
Exacrs193922189
Varsomers193922189
Maprs193922189
PheGenIrs193922189
hapmaprs193922189
1000 genomesrs193922189
hgdprs193922189
ensemblrs193922189
gopubmedrs193922189
geneviewrs193922189
scholarrs193922189
googlers193922189
pharmgkbrs193922189
gwascentralrs193922189
openSNPrs193922189
23andMers193922189
23andMe allrs193922189
SNP Nexus

SNPshotrs193922189
SNPdbers193922189
MSV3drs193922189
GWAS Ctlgrs193922189
Max Magnitude0
ClinVar
Risk rs193922189(C;C)
Alt rs193922189(C;C)
Reference rs193922189(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48787726A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029711.1,