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rs80356511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356511(G;G)
Make rs80356511(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58130810
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356511
ebirs80356511
HLIrs80356511
Exacrs80356511
Varsomers80356511
Maprs80356511
PheGenIrs80356511
hapmaprs80356511
1000 genomesrs80356511
hgdprs80356511
ensemblrs80356511
gopubmedrs80356511
geneviewrs80356511
scholarrs80356511
googlers80356511
pharmgkbrs80356511
gwascentralrs80356511
openSNPrs80356511
23andMers80356511
23andMe allrs80356511
SNP Nexus

SNPshotrs80356511
SNPdbers80356511
MSV3drs80356511
GWAS Ctlgrs80356511
Max Magnitude0
ClinVar
Risk rs80356511(G;G)
Alt rs80356511(G;G)
Reference rs80356511(T;T)
Significance Pathogenic
Disease Larsen syndrome
Variation info
Gene FLNB
CLNDBN Larsen syndrome, dominant type
Reversed 0
HGVS NC_000003.11:g.58116537T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020444.2,