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rs80356501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356501(C;C)
Make rs80356501(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58136111
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356501
ebirs80356501
HLIrs80356501
Exacrs80356501
Varsomers80356501
Maprs80356501
PheGenIrs80356501
hapmaprs80356501
1000 genomesrs80356501
hgdprs80356501
ensemblrs80356501
gopubmedrs80356501
geneviewrs80356501
scholarrs80356501
googlers80356501
pharmgkbrs80356501
gwascentralrs80356501
openSNPrs80356501
23andMers80356501
23andMe allrs80356501
SNP Nexus

SNPshotrs80356501
SNPdbers80356501
MSV3drs80356501
GWAS Ctlgrs80356501
Max Magnitude0
ClinVar
Risk rs80356501(C;C)
Alt rs80356501(C;C)
Reference rs80356501(T;T)
Significance Pathogenic
Disease Atelosteogenesis type 3
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 3
Reversed 0
HGVS NC_000003.11:g.58121838T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020449.2,