Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356514(A;A)
Make rs80356514(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58136082
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356514
ebirs80356514
HLIrs80356514
Exacrs80356514
Varsomers80356514
Maprs80356514
PheGenIrs80356514
hapmaprs80356514
1000 genomesrs80356514
hgdprs80356514
ensemblrs80356514
gopubmedrs80356514
geneviewrs80356514
scholarrs80356514
googlers80356514
pharmgkbrs80356514
gwascentralrs80356514
openSNPrs80356514
23andMers80356514
23andMe allrs80356514
SNP Nexus

SNPshotrs80356514
SNPdbers80356514
MSV3drs80356514
GWAS Ctlgrs80356514
Max Magnitude0
ClinVar
Risk rs80356514(A;A)
Alt rs80356514(A;A)
Reference rs80356514(T;T)
Significance Pathogenic
Disease Larsen syndrome
Variation info
Gene FLNB
CLNDBN Larsen syndrome, dominant type
Reversed 0
HGVS NC_000003.11:g.58121809T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020448.2,