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rs864321714

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321714(A;A)
Make rs864321714(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89933486
GeneTUBB3
is asnp
is mentioned by
dbSNPrs864321714
ebirs864321714
HLIrs864321714
Exacrs864321714
Varsomers864321714
Maprs864321714
PheGenIrs864321714
hapmaprs864321714
1000 genomesrs864321714
hgdprs864321714
ensemblrs864321714
gopubmedrs864321714
geneviewrs864321714
scholarrs864321714
googlers864321714
pharmgkbrs864321714
gwascentralrs864321714
openSNPrs864321714
23andMers864321714
23andMe allrs864321714
SNP Nexus

SNPshotrs864321714
SNPdbers864321714
MSV3drs864321714
GWAS Ctlgrs864321714
Max Magnitude0
ClinVar
Risk rs864321714(A;A)
Alt rs864321714(A;A)
Reference rs864321714(G;G)
Significance Pathogenic
Disease Fibrosis of extraocular muscles
Variation info
Gene TUBB3
CLNDBN Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
Reversed 0
HGVS NC_000016.9:g.89999894G>A
CLNSRC
CLNACC RCV000203610.1,