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rs193922183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922183(A;A)
Make rs193922183(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48510048
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922183
ebirs193922183
HLIrs193922183
Exacrs193922183
Varsomers193922183
Maprs193922183
PheGenIrs193922183
hapmaprs193922183
1000 genomesrs193922183
hgdprs193922183
ensemblrs193922183
gopubmedrs193922183
geneviewrs193922183
scholarrs193922183
googlers193922183
pharmgkbrs193922183
gwascentralrs193922183
openSNPrs193922183
23andMers193922183
23andMe allrs193922183
SNP Nexus

SNPshotrs193922183
SNPdbers193922183
MSV3drs193922183
GWAS Ctlgrs193922183
Max Magnitude0
ClinVar
Risk rs193922183(A;A)
Alt rs193922183(A;A)
Reference rs193922183(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48802245A>T
CLNSRC ClinVar
CLNACC RCV000029699.1,