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rs80356495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356495(G;T)
Make rs80356495(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58078717
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356495
dbSNP (old)rs80356495
ClinGenrs80356495
ebirs80356495
HLIrs80356495
Exacrs80356495
Gnomadrs80356495
Varsomers80356495
Maprs80356495
PheGenIrs80356495
Biobankrs80356495
1000 genomesrs80356495
hgdprs80356495
ensemblrs80356495
gopubmedrs80356495
geneviewrs80356495
scholarrs80356495
googlers80356495
pharmgkbrs80356495
gwascentralrs80356495
openSNPrs80356495
23andMers80356495
23andMe allrs80356495
SNP Nexus

SNPshotrs80356495
SNPdbers80356495
MSV3drs80356495
GWAS Ctlgrs80356495
Max Magnitude0
ClinVar
Risk rs80356495(T;T)
Alt rs80356495(T;T)
Reference Rs80356495(G;G)
Significance Pathogenic
Disease Atelosteogenesis type 1
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 1
Reversed 0
HGVS NC_000003.11:g.58064444G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020453.2,