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rs80356521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356521(-;-)
Make rs80356521(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position58153415
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356521
ebirs80356521
HLIrs80356521
Exacrs80356521
Varsomers80356521
Maprs80356521
PheGenIrs80356521
hapmaprs80356521
1000 genomesrs80356521
hgdprs80356521
ensemblrs80356521
gopubmedrs80356521
geneviewrs80356521
scholarrs80356521
googlers80356521
pharmgkbrs80356521
gwascentralrs80356521
openSNPrs80356521
23andMers80356521
23andMe allrs80356521
SNP Nexus

SNPshotrs80356521
SNPdbers80356521
MSV3drs80356521
GWAS Ctlgrs80356521
Max Magnitude0
OMIM603381
Desc
Variant0001
Relatedalso
ClinVar
Risk
Alt
Reference Rs80356521(C;C)
Significance Pathogenic
Disease Spondylocarpotarsal synostosis syndrome
Variation info
Gene FLNB
CLNDBN Spondylocarpotarsal synostosis syndrome
Reversed 0
HGVS NC_000003.11:g.58139142delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006767.3,


[PMID 14991055] Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.