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rs193922219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922219(G;T)
Make rs193922219(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48446701
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922219
ebirs193922219
HLIrs193922219
Exacrs193922219
Varsomers193922219
Maprs193922219
PheGenIrs193922219
hapmaprs193922219
1000 genomesrs193922219
hgdprs193922219
ensemblrs193922219
gopubmedrs193922219
geneviewrs193922219
scholarrs193922219
googlers193922219
pharmgkbrs193922219
gwascentralrs193922219
openSNPrs193922219
23andMers193922219
23andMe allrs193922219
SNP Nexus

SNPshotrs193922219
SNPdbers193922219
MSV3drs193922219
GWAS Ctlgrs193922219
Max Magnitude0
ClinVar
Risk rs193922219(A,T;A,T)
Alt rs193922219(A,T;A,T)
Reference rs193922219(G;G)
Significance Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48738898C>A; NC_000015.9:g.48738898C>T
CLNSRC ClinVar
CLNACC RCV000029757.1, RCV000035236.3, RCV000181550.2,