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rs121908895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908895(A;G)
Make rs121908895(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58078779
GeneFLNB
is asnp
is mentioned by
dbSNPrs121908895
dbSNP (classic)rs121908895
ClinGenrs121908895
ebirs121908895
HLIrs121908895
Exacrs121908895
Gnomadrs121908895
Varsomers121908895
LitVarrs121908895
Maprs121908895
PheGenIrs121908895
Biobankrs121908895
1000 genomesrs121908895
hgdprs121908895
ensemblrs121908895
geneviewrs121908895
scholarrs121908895
googlers121908895
pharmgkbrs121908895
gwascentralrs121908895
openSNPrs121908895
23andMers121908895
SNPshotrs121908895
SNPdbers121908895
MSV3drs121908895
GWAS Ctlgrs121908895
Max Magnitude0
OMIM603381
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908895(G;G)
Alt rs121908895(G;G)
Reference Rs121908895(A;A)
Significance Pathogenic
Disease Atelosteogenesis type 1 Atelosteogenesis type 3
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 1 Atelosteogenesis type 3
Reversed 0
HGVS NC_000003.11:g.58064506A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006771.3, RCV000006772.3,