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rs193922223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922223(G;T)
Make rs193922223(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48437072
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922223
ebirs193922223
HLIrs193922223
Exacrs193922223
Varsomers193922223
Maprs193922223
PheGenIrs193922223
hapmaprs193922223
1000 genomesrs193922223
hgdprs193922223
ensemblrs193922223
gopubmedrs193922223
geneviewrs193922223
scholarrs193922223
googlers193922223
pharmgkbrs193922223
gwascentralrs193922223
openSNPrs193922223
23andMers193922223
23andMe allrs193922223
SNP Nexus

SNPshotrs193922223
SNPdbers193922223
MSV3drs193922223
GWAS Ctlgrs193922223
Max Magnitude0
ClinVar
Risk rs193922223(T;T)
Alt rs193922223(T;T)
Reference rs193922223(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48729269C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029762.1,