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rs80356515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356515(C;T)
Make rs80356515(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58136115
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356515
dbSNP (classic)rs80356515
ClinGenrs80356515
ebirs80356515
HLIrs80356515
Exacrs80356515
Gnomadrs80356515
Varsomers80356515
LitVarrs80356515
Maprs80356515
PheGenIrs80356515
Biobankrs80356515
1000 genomesrs80356515
hgdprs80356515
ensemblrs80356515
geneviewrs80356515
scholarrs80356515
googlers80356515
pharmgkbrs80356515
gwascentralrs80356515
openSNPrs80356515
23andMers80356515
SNPshotrs80356515
SNPdbers80356515
MSV3drs80356515
GWAS Ctlgrs80356515
Max Magnitude0
ClinVar
Risk rs80356515(T;T)
Alt rs80356515(T;T)
Reference Rs80356515(C;C)
Significance Pathogenic
Disease Larsen syndrome
Variation info
Gene FLNB
CLNDBN Larsen syndrome, dominant type
Reversed 0
HGVS NC_000003.11:g.58121842C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000020450.2,