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rs80356493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356493(A;A)
Make rs80356493(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58077195
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356493
ebirs80356493
HLIrs80356493
Exacrs80356493
Varsomers80356493
Maprs80356493
PheGenIrs80356493
hapmaprs80356493
1000 genomesrs80356493
hgdprs80356493
ensemblrs80356493
gopubmedrs80356493
geneviewrs80356493
scholarrs80356493
googlers80356493
pharmgkbrs80356493
gwascentralrs80356493
openSNPrs80356493
23andMers80356493
23andMe allrs80356493
SNP Nexus

SNPshotrs80356493
SNPdbers80356493
MSV3drs80356493
GWAS Ctlgrs80356493
Max Magnitude0
ClinVar
Risk rs80356493(A;A)
Alt rs80356493(A;A)
Reference rs80356493(T;T)
Significance Pathogenic
Disease Atelosteogenesis type 1
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 1
Reversed 0
HGVS NC_000003.11:g.58062922T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020445.2,