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rs80356517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356517(C;T)
Make rs80356517(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58108461
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356517
ebirs80356517
HLIrs80356517
Exacrs80356517
Varsomers80356517
Maprs80356517
PheGenIrs80356517
hapmaprs80356517
1000 genomesrs80356517
hgdprs80356517
ensemblrs80356517
gopubmedrs80356517
geneviewrs80356517
scholarrs80356517
googlers80356517
pharmgkbrs80356517
gwascentralrs80356517
openSNPrs80356517
23andMers80356517
23andMe allrs80356517
SNP Nexus

SNPshotrs80356517
SNPdbers80356517
MSV3drs80356517
GWAS Ctlgrs80356517
Max Magnitude0
ClinVar
Risk rs80356517(T;T)
Alt rs80356517(T;T)
Reference rs80356517(C;C)
Significance Pathogenic
Disease Spondylocarpotarsal synostosis syndrome
Variation info
Gene FLNB
CLNDBN Spondylocarpotarsal synostosis syndrome
Reversed 0
HGVS NC_000003.11:g.58094188C>T
CLNSRC Universidade Católica de Brasília
CLNACC RCV000020443.2,