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rs193922220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193922220(-;-)
Make rs193922220(-;TGGATAC)
Make rs193922220(TGGATAC;TGGATAC)
ReferenceGRCh38 38.1/141
Chromosome15
Position48444565
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922220
ebirs193922220
HLIrs193922220
Exacrs193922220
Varsomers193922220
Maprs193922220
PheGenIrs193922220
hapmaprs193922220
1000 genomesrs193922220
hgdprs193922220
ensemblrs193922220
gopubmedrs193922220
geneviewrs193922220
scholarrs193922220
googlers193922220
pharmgkbrs193922220
gwascentralrs193922220
openSNPrs193922220
23andMers193922220
23andMe allrs193922220
SNP Nexus

SNPshotrs193922220
SNPdbers193922220
MSV3drs193922220
GWAS Ctlgrs193922220
Max Magnitude0
ClinVar
Risk rs193922220(TGGATAC;TGGATAC)
Alt rs193922220(TGGATAC;TGGATAC)
Reference rs193922220(;)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48736763_48736769dupGTATCCA
CLNSRC ClinVar LabCorp
CLNACC RCV000029758.1,