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rs80356502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356502(G;T)
Make rs80356502(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58138347
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356502
ebirs80356502
HLIrs80356502
Exacrs80356502
Varsomers80356502
Maprs80356502
PheGenIrs80356502
hapmaprs80356502
1000 genomesrs80356502
hgdprs80356502
ensemblrs80356502
gopubmedrs80356502
geneviewrs80356502
scholarrs80356502
googlers80356502
pharmgkbrs80356502
gwascentralrs80356502
openSNPrs80356502
23andMers80356502
23andMe allrs80356502
SNP Nexus

SNPshotrs80356502
SNPdbers80356502
MSV3drs80356502
GWAS Ctlgrs80356502
Max Magnitude0
ClinVar
Risk rs80356502(T;T)
Alt rs80356502(T;T)
Reference rs80356502(G;G)
Significance Pathogenic
Disease Atelosteogenesis type 3
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 3
Reversed 0
HGVS NC_000003.11:g.58124074G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020451.2,