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rs193922185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922185(C;T)
Make rs193922185(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48505037
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922185
ebirs193922185
HLIrs193922185
Exacrs193922185
Varsomers193922185
Maprs193922185
PheGenIrs193922185
hapmaprs193922185
1000 genomesrs193922185
hgdprs193922185
ensemblrs193922185
gopubmedrs193922185
geneviewrs193922185
scholarrs193922185
googlers193922185
pharmgkbrs193922185
gwascentralrs193922185
openSNPrs193922185
23andMers193922185
23andMe allrs193922185
SNP Nexus

SNPshotrs193922185
SNPdbers193922185
MSV3drs193922185
GWAS Ctlgrs193922185
Max Magnitude0
ClinVar
Risk rs193922185(T;T)
Alt rs193922185(T;T)
Reference rs193922185(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48797234G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029702.1,