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rs193922216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922216(C;C)
Make rs193922216(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48448768
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922216
ebirs193922216
HLIrs193922216
Exacrs193922216
Varsomers193922216
Maprs193922216
PheGenIrs193922216
hapmaprs193922216
1000 genomesrs193922216
hgdprs193922216
ensemblrs193922216
gopubmedrs193922216
geneviewrs193922216
scholarrs193922216
googlers193922216
pharmgkbrs193922216
gwascentralrs193922216
openSNPrs193922216
23andMers193922216
23andMe allrs193922216
SNP Nexus

SNPshotrs193922216
SNPdbers193922216
MSV3drs193922216
GWAS Ctlgrs193922216
Max Magnitude0
ClinVar
Risk rs193922216(C;C)
Alt rs193922216(C;C)
Reference rs193922216(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48740965C>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029754.1,