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rs80356494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356494(A;A)
Make rs80356494(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58077265
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356494
ebirs80356494
HLIrs80356494
Exacrs80356494
Varsomers80356494
Maprs80356494
PheGenIrs80356494
hapmaprs80356494
1000 genomesrs80356494
hgdprs80356494
ensemblrs80356494
gopubmedrs80356494
geneviewrs80356494
scholarrs80356494
googlers80356494
pharmgkbrs80356494
gwascentralrs80356494
openSNPrs80356494
23andMers80356494
23andMe allrs80356494
SNP Nexus

SNPshotrs80356494
SNPdbers80356494
MSV3drs80356494
GWAS Ctlgrs80356494
Max Magnitude0
OMIM603381
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80356494(A,G;A,G)
Alt rs80356494(A,G;A,G)
Reference rs80356494(T;T)
Significance Pathogenic
Disease Atelosteogenesis type 1 Boomerang dysplasia
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 1 Boomerang dysplasia
Reversed 0
HGVS NC_000003.11:g.58062992T>A; NC_000003.11:g.58062992T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020452.2, RCV000006774.3,