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rs193922191

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922191(A;C)
Make rs193922191(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48495258
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922191
ebirs193922191
HLIrs193922191
Exacrs193922191
Varsomers193922191
Maprs193922191
PheGenIrs193922191
hapmaprs193922191
1000 genomesrs193922191
hgdprs193922191
ensemblrs193922191
gopubmedrs193922191
geneviewrs193922191
scholarrs193922191
googlers193922191
pharmgkbrs193922191
gwascentralrs193922191
openSNPrs193922191
23andMers193922191
23andMe allrs193922191
SNP Nexus

SNPshotrs193922191
SNPdbers193922191
MSV3drs193922191
GWAS Ctlgrs193922191
Max Magnitude0
ClinVar
Risk rs193922191(C;C)
Alt rs193922191(C;C)
Reference rs193922191(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48787455T>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029713.1,