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rs80356506

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Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356506(G;G)
Make rs80356506(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58077235
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356506
ebirs80356506
HLIrs80356506
Exacrs80356506
Varsomers80356506
Maprs80356506
PheGenIrs80356506
hapmaprs80356506
1000 genomesrs80356506
hgdprs80356506
ensemblrs80356506
gopubmedrs80356506
geneviewrs80356506
scholarrs80356506
googlers80356506
pharmgkbrs80356506
gwascentralrs80356506
openSNPrs80356506
23andMers80356506
23andMe allrs80356506
SNP Nexus

SNPshotrs80356506
SNPdbers80356506
MSV3drs80356506
GWAS Ctlgrs80356506
Max Magnitude0
OMIM603381
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356506(G;G)
Alt rs80356506(G;G)
Reference rs80356506(T;T)
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.58062962T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030660.3, RCV000030670.2,


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