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rs80356496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356496(C;G)
Make rs80356496(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58078724
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356496
ebirs80356496
HLIrs80356496
Exacrs80356496
Varsomers80356496
Maprs80356496
PheGenIrs80356496
hapmaprs80356496
1000 genomesrs80356496
hgdprs80356496
ensemblrs80356496
gopubmedrs80356496
geneviewrs80356496
scholarrs80356496
googlers80356496
pharmgkbrs80356496
gwascentralrs80356496
openSNPrs80356496
23andMers80356496
23andMe allrs80356496
SNP Nexus

SNPshotrs80356496
SNPdbers80356496
MSV3drs80356496
GWAS Ctlgrs80356496
Max Magnitude0
ClinVar
Risk rs80356496(G;G)
Alt rs80356496(G;G)
Reference rs80356496(C;C)
Significance Pathogenic
Disease Atelosteogenesis type 1
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 1
Reversed 0
HGVS NC_000003.11:g.58064451C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020454.2,