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rs193922225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193922225(-;-)
Make rs193922225(-;ATTG)
Make rs193922225(ATTG;ATTG)
ReferenceGRCh38 38.1/141
Chromosome15
Position48434653
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922225
ebirs193922225
HLIrs193922225
Exacrs193922225
Varsomers193922225
Maprs193922225
PheGenIrs193922225
hapmaprs193922225
1000 genomesrs193922225
hgdprs193922225
ensemblrs193922225
gopubmedrs193922225
geneviewrs193922225
scholarrs193922225
googlers193922225
pharmgkbrs193922225
gwascentralrs193922225
openSNPrs193922225
23andMers193922225
23andMe allrs193922225
SNP Nexus

SNPshotrs193922225
SNPdbers193922225
MSV3drs193922225
GWAS Ctlgrs193922225
Max Magnitude0
ClinVar
Risk rs193922225(ATTG;ATTG)
Alt rs193922225(ATTG;ATTG)
Reference rs193922225(;)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48726851_48726854dupCAAT
CLNSRC ClinVar LabCorp
CLNACC RCV000029764.1,