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rs80356497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356497(A;C)
Make rs80356497(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position58078783
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356497
ebirs80356497
HLIrs80356497
Exacrs80356497
Varsomers80356497
Maprs80356497
PheGenIrs80356497
hapmaprs80356497
1000 genomesrs80356497
hgdprs80356497
ensemblrs80356497
gopubmedrs80356497
geneviewrs80356497
scholarrs80356497
googlers80356497
pharmgkbrs80356497
gwascentralrs80356497
openSNPrs80356497
23andMers80356497
23andMe allrs80356497
SNP Nexus

SNPshotrs80356497
SNPdbers80356497
MSV3drs80356497
GWAS Ctlgrs80356497
Max Magnitude0
ClinVar
Risk rs80356497(C;C)
Alt rs80356497(C;C)
Reference rs80356497(A;A)
Significance Pathogenic
Disease Atelosteogenesis type 1
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 1
Reversed 0
HGVS NC_000003.11:g.58064510A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020457.2,