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rs80356498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGA;CGA) 0 common in clinvar
(GAC;GAC) 0 common in clinvar
Make rs80356498(-;-)
Make rs80356498(-;GAC)
ReferenceGRCh38 38.1/141
Chromosome3
Position58136054
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356498
ebirs80356498
HLIrs80356498
Exacrs80356498
Varsomers80356498
Maprs80356498
PheGenIrs80356498
hapmaprs80356498
1000 genomesrs80356498
hgdprs80356498
ensemblrs80356498
gopubmedrs80356498
geneviewrs80356498
scholarrs80356498
googlers80356498
pharmgkbrs80356498
gwascentralrs80356498
openSNPrs80356498
23andMers80356498
23andMe allrs80356498
SNP Nexus

SNPshotrs80356498
SNPdbers80356498
MSV3drs80356498
GWAS Ctlgrs80356498
Max Magnitude0
ClinVar
Risk rs80356498(;)
Alt rs80356498(;)
Reference rs80356498(CGA;CGA)
Significance Pathogenic
Disease Atelosteogenesis type 1
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 1
Reversed 0
HGVS NC_000003.11:g.58121781_58121783delGAC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020447.2,