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rs80356512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAT;AAT) 0 common in clinvar
Make rs80356512(-;-)
Make rs80356512(-;AAT)
ReferenceGRCh38 38.1/141
Chromosome3
Position58136018
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356512
ebirs80356512
HLIrs80356512
Exacrs80356512
Varsomers80356512
Maprs80356512
PheGenIrs80356512
hapmaprs80356512
1000 genomesrs80356512
hgdprs80356512
ensemblrs80356512
gopubmedrs80356512
geneviewrs80356512
scholarrs80356512
googlers80356512
pharmgkbrs80356512
gwascentralrs80356512
openSNPrs80356512
23andMers80356512
23andMe allrs80356512
SNP Nexus

SNPshotrs80356512
SNPdbers80356512
MSV3drs80356512
GWAS Ctlgrs80356512
Max Magnitude0
ClinVar
Risk rs80356512(;)
Alt rs80356512(;)
Reference rs80356512(AAT;AAT)
Significance Pathogenic
Disease Larsen syndrome
Variation info
Gene FLNB
CLNDBN Larsen syndrome, dominant type
Reversed 0
HGVS NC_000003.11:g.58121745_58121747delAAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020446.2,