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rs193922212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTCACCTC;TTCACCTC) 0 common in clinvar
Make rs193922212(-;-)
Make rs193922212(-;TTCACCTC)
ReferenceGRCh38 38.1/141
Chromosome15
Position48452579
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922212
ebirs193922212
HLIrs193922212
Exacrs193922212
Varsomers193922212
Maprs193922212
PheGenIrs193922212
hapmaprs193922212
1000 genomesrs193922212
hgdprs193922212
ensemblrs193922212
gopubmedrs193922212
geneviewrs193922212
scholarrs193922212
googlers193922212
pharmgkbrs193922212
gwascentralrs193922212
openSNPrs193922212
23andMers193922212
23andMe allrs193922212
SNP Nexus

SNPshotrs193922212
SNPdbers193922212
MSV3drs193922212
GWAS Ctlgrs193922212
Max Magnitude0
ClinVar
Risk rs193922212(;)
Alt rs193922212(;)
Reference rs193922212(TTCACCTC;TTCACCTC)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48744776_48744783delGAGGTGAA
CLNSRC ClinVar LabCorp
CLNACC RCV000029750.1,