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rs80356516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356516(A;A)
Make rs80356516(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58145995
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356516
ebirs80356516
HLIrs80356516
Exacrs80356516
Varsomers80356516
Maprs80356516
PheGenIrs80356516
hapmaprs80356516
1000 genomesrs80356516
hgdprs80356516
ensemblrs80356516
gopubmedrs80356516
geneviewrs80356516
scholarrs80356516
googlers80356516
pharmgkbrs80356516
gwascentralrs80356516
openSNPrs80356516
23andMers80356516
23andMe allrs80356516
SNP Nexus

SNPshotrs80356516
SNPdbers80356516
MSV3drs80356516
GWAS Ctlgrs80356516
Max Magnitude0
ClinVar
Risk rs80356516(A;A)
Alt rs80356516(A;A)
Reference rs80356516(G;G)
Significance Pathogenic
Disease Larsen syndrome
Variation info
Gene FLNB
CLNDBN Larsen syndrome, dominant type
Reversed 0
HGVS NC_000003.11:g.58131722G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020455.2,


[PMID 16648377OA-icon.png] Mutations responsible for Larsen syndrome cluster in the FLNB protein.


[PMID 16801345OA-icon.png] A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.