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rs112202622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs112202622(G;T)
Make rs112202622(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48490079
GeneFBN1
is asnp
is mentioned by
dbSNPrs112202622
ebirs112202622
HLIrs112202622
Exacrs112202622
Varsomers112202622
Maprs112202622
PheGenIrs112202622
hapmaprs112202622
1000 genomesrs112202622
hgdprs112202622
ensemblrs112202622
gopubmedrs112202622
geneviewrs112202622
scholarrs112202622
googlers112202622
pharmgkbrs112202622
gwascentralrs112202622
openSNPrs112202622
23andMers112202622
23andMe allrs112202622
SNP Nexus

SNPshotrs112202622
SNPdbers112202622
MSV3drs112202622
GWAS Ctlgrs112202622
Max Magnitude0
ClinVar
Risk rs112202622(A,C,T;A,C,T)
Alt rs112202622(A,C,T;A,C,T)
Reference rs112202622(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48782276C>G; NC_000015.9:g.48782276C>T
CLNSRC ClinVar
CLNACC RCV000029718.1, RCV000035152.2,