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rs193922199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922199(G;T)
Make rs193922199(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48487186
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922199
ebirs193922199
HLIrs193922199
Exacrs193922199
Varsomers193922199
Maprs193922199
PheGenIrs193922199
hapmaprs193922199
1000 genomesrs193922199
hgdprs193922199
ensemblrs193922199
gopubmedrs193922199
geneviewrs193922199
scholarrs193922199
googlers193922199
pharmgkbrs193922199
gwascentralrs193922199
openSNPrs193922199
23andMers193922199
23andMe allrs193922199
SNP Nexus

SNPshotrs193922199
SNPdbers193922199
MSV3drs193922199
GWAS Ctlgrs193922199
Max Magnitude0
ClinVar
Risk rs193922199(T;T)
Alt rs193922199(T;T)
Reference rs193922199(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48779383C>A
CLNSRC ClinVar
CLNACC RCV000029727.1,