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rs80356500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356500(G;T)
Make rs80356500(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58078804
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356500
ebirs80356500
HLIrs80356500
Exacrs80356500
Varsomers80356500
Maprs80356500
PheGenIrs80356500
hapmaprs80356500
1000 genomesrs80356500
hgdprs80356500
ensemblrs80356500
gopubmedrs80356500
geneviewrs80356500
scholarrs80356500
googlers80356500
pharmgkbrs80356500
gwascentralrs80356500
openSNPrs80356500
23andMers80356500
23andMe allrs80356500
SNP Nexus

SNPshotrs80356500
SNPdbers80356500
MSV3drs80356500
GWAS Ctlgrs80356500
Max Magnitude0
ClinVar
Risk rs80356500(T;T)
Alt rs80356500(T;T)
Reference rs80356500(G;G)
Significance Pathogenic
Disease Atelosteogenesis type 3
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 3
Reversed 0
HGVS NC_000003.11:g.58064531G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020458.2,