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rs121908896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908896(C;C)
Make rs121908896(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58081692
GeneFLNB
is asnp
is mentioned by
dbSNPrs121908896
dbSNP (classic)rs121908896
ClinGenrs121908896
ebirs121908896
HLIrs121908896
Exacrs121908896
Gnomadrs121908896
Varsomers121908896
LitVarrs121908896
Maprs121908896
PheGenIrs121908896
Biobankrs121908896
1000 genomesrs121908896
hgdprs121908896
ensemblrs121908896
geneviewrs121908896
scholarrs121908896
googlers121908896
pharmgkbrs121908896
gwascentralrs121908896
openSNPrs121908896
23andMers121908896
SNPshotrs121908896
SNPdbers121908896
MSV3drs121908896
GWAS Ctlgrs121908896
Max Magnitude0
OMIM603381
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908896(C;C)
Alt rs121908896(C;C)
Reference Rs121908896(T;T)
Significance Pathogenic
Disease Boomerang dysplasia
Variation info
Gene FLNB
CLNDBN Boomerang dysplasia
Reversed 0
HGVS NC_000003.11:g.58067419T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006775.3,