Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193922227(-;-)
Make rs193922227(-;TGCAAGAA)
Make rs193922227(TGCAAGAA;TGCAAGAA)
ReferenceGRCh38 38.1/141
Chromosome15
Position48430741
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922227
ebirs193922227
HLIrs193922227
Exacrs193922227
Varsomers193922227
Maprs193922227
PheGenIrs193922227
hapmaprs193922227
1000 genomesrs193922227
hgdprs193922227
ensemblrs193922227
gopubmedrs193922227
geneviewrs193922227
scholarrs193922227
googlers193922227
pharmgkbrs193922227
gwascentralrs193922227
openSNPrs193922227
23andMers193922227
23andMe allrs193922227
SNP Nexus

SNPshotrs193922227
SNPdbers193922227
MSV3drs193922227
GWAS Ctlgrs193922227
Max Magnitude0
ClinVar
Risk rs193922227(TGCAAGAA;TGCAAGAA)
Alt rs193922227(TGCAAGAA;TGCAAGAA)
Reference rs193922227(;)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48722939_48722946dupTTCTTGCA
CLNSRC ClinVar LabCorp
CLNACC RCV000029768.1,