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rs193922246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAAAAT;TAAAAT) 0 common in clinvar
Make rs193922246(-;-)
Make rs193922246(-;TAAAAT)
ReferenceGRCh38 38.1/141
Chromosome15
Position48411189
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922246
ebirs193922246
HLIrs193922246
Exacrs193922246
Varsomers193922246
Maprs193922246
PheGenIrs193922246
hapmaprs193922246
1000 genomesrs193922246
hgdprs193922246
ensemblrs193922246
gopubmedrs193922246
geneviewrs193922246
scholarrs193922246
googlers193922246
pharmgkbrs193922246
gwascentralrs193922246
openSNPrs193922246
23andMers193922246
23andMe allrs193922246
SNP Nexus

SNPshotrs193922246
SNPdbers193922246
MSV3drs193922246
GWAS Ctlgrs193922246
Max Magnitude0
ClinVar
Risk rs193922246(;)
Alt rs193922246(;)
Reference rs193922246(TAAAAT;TAAAAT)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48703386_48703391delATTTTA
CLNSRC ClinVar
CLNACC RCV000029794.1,