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rs80356513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356513(A;A)
Make rs80356513(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58136063
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356513
ebirs80356513
HLIrs80356513
Exacrs80356513
Varsomers80356513
Maprs80356513
PheGenIrs80356513
hapmaprs80356513
1000 genomesrs80356513
hgdprs80356513
ensemblrs80356513
gopubmedrs80356513
geneviewrs80356513
scholarrs80356513
googlers80356513
pharmgkbrs80356513
gwascentralrs80356513
openSNPrs80356513
23andMers80356513
23andMe allrs80356513
SNP Nexus

SNPshotrs80356513
SNPdbers80356513
MSV3drs80356513
GWAS Ctlgrs80356513
Merged fromRs28939706
Max Magnitude0
OMIM603381
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80356513(A;A)
Alt rs80356513(A;A)
Reference rs80356513(G;G)
Significance Pathogenic
Disease Larsen syndrome Larsen syndrome
Variation info
Gene FLNB
CLNDBN Larsen syndrome Larsen syndrome, dominant type
Reversed 0
HGVS NC_000003.11:g.58121790G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030661.3, RCV000030669.2,


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