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rs80356507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356507(C;G)
Make rs80356507(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58081689
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356507
ebirs80356507
HLIrs80356507
Exacrs80356507
Varsomers80356507
Maprs80356507
PheGenIrs80356507
hapmaprs80356507
1000 genomesrs80356507
hgdprs80356507
ensemblrs80356507
gopubmedrs80356507
geneviewrs80356507
scholarrs80356507
googlers80356507
pharmgkbrs80356507
gwascentralrs80356507
openSNPrs80356507
23andMers80356507
23andMe allrs80356507
SNP Nexus

SNPshotrs80356507
SNPdbers80356507
MSV3drs80356507
GWAS Ctlgrs80356507
Max Magnitude0
ClinVar
Risk rs80356507(G;G)
Alt rs80356507(G;G)
Reference rs80356507(C;C)
Significance Pathogenic
Disease Larsen syndrome
Variation info
Gene FLNB
CLNDBN Larsen syndrome, dominant type
Reversed 0
HGVS NC_000003.11:g.58067416C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020459.2,