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rs80356520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356520(C;T)
Make rs80356520(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58136126
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356520
ebirs80356520
HLIrs80356520
Exacrs80356520
Varsomers80356520
Maprs80356520
PheGenIrs80356520
hapmaprs80356520
1000 genomesrs80356520
hgdprs80356520
ensemblrs80356520
gopubmedrs80356520
geneviewrs80356520
scholarrs80356520
googlers80356520
pharmgkbrs80356520
gwascentralrs80356520
openSNPrs80356520
23andMers80356520
23andMe allrs80356520
SNP Nexus

SNPshotrs80356520
SNPdbers80356520
MSV3drs80356520
GWAS Ctlgrs80356520
Max Magnitude0
OMIM603381
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356520(G,T;G,T)
Alt rs80356520(G,T;G,T)
Reference rs80356520(C;C)
Significance Pathogenic
Disease Spondylocarpotarsal synostosis syndrome
Variation info
Gene FLNB
CLNDBN Spondylocarpotarsal synostosis syndrome
Reversed 0
HGVS NC_000003.11:g.58121853C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006769.3,


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