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rs587777259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777259(A;A)
Make rs587777259(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position58077270
GeneFLNB
is asnp
is mentioned by
dbSNPrs587777259
dbSNP (classic)rs587777259
ClinGenrs587777259
ebirs587777259
HLIrs587777259
Exacrs587777259
Gnomadrs587777259
Varsomers587777259
LitVarrs587777259
Maprs587777259
PheGenIrs587777259
Biobankrs587777259
1000 genomesrs587777259
hgdprs587777259
ensemblrs587777259
geneviewrs587777259
scholarrs587777259
googlers587777259
pharmgkbrs587777259
gwascentralrs587777259
openSNPrs587777259
23andMers587777259
SNPshotrs587777259
SNPdbers587777259
MSV3drs587777259
GWAS Ctlgrs587777259
Max Magnitude0
ClinVar
Risk rs587777259(A;A)
Alt rs587777259(A;A)
Reference Rs587777259(G;G)
Significance Pathogenic
Disease Atelosteogenesis type 1
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 1
Reversed 0
HGVS NC_000003.11:g.58062997G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114316.2,