Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356519(C;T)
Make rs80356519(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58110138
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356519
ebirs80356519
HLIrs80356519
Exacrs80356519
Varsomers80356519
Maprs80356519
PheGenIrs80356519
hapmaprs80356519
1000 genomesrs80356519
hgdprs80356519
ensemblrs80356519
gopubmedrs80356519
geneviewrs80356519
scholarrs80356519
googlers80356519
pharmgkbrs80356519
gwascentralrs80356519
openSNPrs80356519
23andMers80356519
23andMe allrs80356519
SNP Nexus

SNPshotrs80356519
SNPdbers80356519
MSV3drs80356519
GWAS Ctlgrs80356519
Max Magnitude0
OMIM603381
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356519(T;T)
Alt rs80356519(T;T)
Reference rs80356519(C;C)
Significance Pathogenic
Disease Spondylocarpotarsal synostosis syndrome
Variation info
Gene FLNB
CLNDBN Spondylocarpotarsal synostosis syndrome
Reversed 0
HGVS NC_000003.11:g.58095865C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006768.3,


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