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rs193922197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs193922197(-;-)
Make rs193922197(-;CC)
ReferenceGRCh38 38.1/141
Chromosome15
Position48488435
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922197
ebirs193922197
HLIrs193922197
Exacrs193922197
Varsomers193922197
Maprs193922197
PheGenIrs193922197
hapmaprs193922197
1000 genomesrs193922197
hgdprs193922197
ensemblrs193922197
gopubmedrs193922197
geneviewrs193922197
scholarrs193922197
googlers193922197
pharmgkbrs193922197
gwascentralrs193922197
openSNPrs193922197
23andMers193922197
23andMe allrs193922197
SNP Nexus

SNPshotrs193922197
SNPdbers193922197
MSV3drs193922197
GWAS Ctlgrs193922197
Max Magnitude0
ClinVar
Risk rs193922197(;)
Alt rs193922197(;)
Reference rs193922197(CC;CC)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48780632_48780633delGG
CLNSRC ClinVar LabCorp
CLNACC RCV000029723.1,